5
1580卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- T> A类[展示侧翼]
- 染色体：
- 5:77428144（GRCh38）
5:76723969（GRCh37）
- 标准SPDI:
- NC_000005.10:77428143:电话：A
- 基因：
- PDE8B型(Varview公司)
- 功能后果：
- 3_基本_UTR_变量
- 临床意义:
- 温和的
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
A=0.006829/129(ALFA公司)A=0.001667/1（瑞典北部）A=0.002342/12（1000个基因组）A=0.003049/1（HapMap）A=0.00463/1（卡塔尔）A=0.005115/1354（顶部）A=0.005646/792（GnomAD）A=0.00692/31（爱沙尼亚语）A=0.009018/9（荷兰政府）A=0.010518/39（TWINSUK公司）A=0.011676/45（ALSPAC） - HGVS：
NC_ 000005.10:g.77428144T>A,NC_ 000005.9:g.76723969T>A,NG_023364.2：g.252893T>A,NM_003719.5:c.*1590T>A,NM_003719.4:c.*1590T>A,NM_003719.3:c.*1590T>A,NM_001029853.4:c.*1590T>A,NM_001029853.3:c.*1590T>A,NM_001029853.2:c.*1590T>A,NM_001029854.4:c.*1590T>A,NM_001029854.3：c.*1590T>A,NM_001029854.2:c.*1590T>A,NM_001029852.4:c.*1590T>A,NM_001029852.3:c.*1590T>A,NM_001029852.2:c.*1590T>A,NM_001029851.4:c.*1590T>A,NM_001029851.3：c.*1590T>A,NM_001029851.2：c.*1590T>A,NM_001349749.3:c.*1590T>A,NM_001349749.2:c.*1590T>A,NM_001349749.1:c.*1590T>A,NM_001349748.3:c.*1590T>A,NM_001349748.2:c.*1590T>A,NM_001349748.1:c.*1590T>A,NM_001349751.3:c.*1676T>A,NM_001349751.2:c.*1676T>A,NM_001349751.1:c.*1676T>A,NM_001349750.3:c.*1590T>A,NM_001349750.2:c.*1590T>A,NM_001349750.1:c.*1590T>A,NM_001349752.3:c.*1590T>A,NM_001349752.2：c.*1590T>A,NM_001349752.1：c.*1590T>A,NM_001349753.2：c.*1590T>A,NM_001349753.1:c.*1590T>A,NM_001376063.1:c.*1590T>A,NM_001376064.1:c.*1590T>A,NM_001376067.1:c.*1590T>A,NM_001376068.1:c.*1590T>A,NM_001376065.1:c.*1590T>A,NM_001376062.1:c.*1590T>A,NM_001376066.1:c.*1590T>A,NM_001376075.1:c.*1590T>A,NM_001376069.1：c.*1590T>A,NM_001376072.1:c.*1676T>A,NM_001376070.1:c.*1590T>A,NM_001376071.1:c.*1590T>A,NM_001376073.1:c.*1590T>A,NM_001376074.1:c.*1590T>A,XM_006714726.4:c.*1590T>A,XM_006714726.3:c.*1590T>A,XM_006714726.1:c.*1590T>A,XM_011543699.4:c.*1676T>A,XM_011543699.2:c.*1676T>答,XM_011543700.4:c.*1590T>A,XM_011543700.2:c.*1590T>A,XM_047417855.1:c.*1590T>A,XM_047417857.1:c.*1590T>A,XM_047417856.1:c.*1590T>A,XM_047417854.1:c.*1590T>A,XM_047417853.1:c.*1590T>A,XM_047417852.1:c.*1590T>A
6
2437卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- C> A、T[展示侧翼]
- 染色体：
- 4:25847741（GRCh38）
4:25849363（GRCh37）
- 标准SPDI:
- NC_00004.12:2584770:C:A，NC_0000.4.12:25847740:C:T
- 基因：
- 销售1L3(Varview公司)
- 功能后果：
- 错义变量、非编码转换变量、编码序列变量、5_prime_UTR_variant
- 临床意义:
- 温和的
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
T=0.000281/56(ALFA公司)T=0./0（HapMap）T=0.001263/1（PRJEB37584）T=0.002854/400（GnomAD）T=0.003353/40（GoESP）温度=0.003435/17（1000个基因组）T=0.004367/8（韩国1K）温度=0.004956/390（第页_STUDY）温度=0.008556/25（韩国）温度=0.013889/3（卡塔尔） - HGVS：
NC_ 000004.12:g.25847741C>A,NC_ 000004.12:g.25847741C>T,NC_ 000004.11:g.25849363C>A,NC_ 000004.11:g.25849363C>T,NM_015187.5:约286G>T,NM_015187.5:c.286G>A,NM_015187.4:c.286G>温度,NM_015187.4:c.286G>A,NM_015187.3:c.286G>温度,NM_015187.3:c.286G>A,XR_001741182.3:n.257G>T,XR_001741182.3:n.257G>A,XR_001741182.2:n.228G>T,XR_001741182.2:n.228G>A,XR_001741182.1:编号119G>T,XR_001741182.1:n.119G>A,XM_011513819.3:c.286G>T,XM_011513819.3:c.286G>A,XM_011513819.2:c.286G>T,XM_011513819.2:c.286G>A,XM_011513819.1:c.-174G>T,XM_011513819.1:c.-174G>答,NM_001297594.2:c.-174G>温度,NM_001297594.2：c.-174G>A,NM_001297594.1:c.-174G>温度,NM_001297594.1：c.-174G>A,NM_001297592.2:c.181G>T,NM_001297592.2：c.181G>A,NM_001297592.1:c.181G>T,NM_001297592.1:c.181G>A,XM_024453953.2：c.-174G>温度,XM_024453953.2：c.-174G>A,XM_024453953.1:c.-174G>温度,XM_024453953.1：c.-174G>A,XR_007096389.1:n.438G>T,XR_007096389.1:n.438G>A,XR_007096388.1:n.438G>T,XR_007096388.1:n.438G>A,XR_007096387.1:n.257G>T,XR_007096387.1:n.257G>A,NP_056002.2：p.Val96Phe,NP_056002.2：p.Val96Ile,XP_011512121.2：p.Val96Phe,XP_011512121.2:p.Val96Ile公司,NP_001284521.1：p.Val61Phe,NP_001284521.1：p.Val61Ile
8
2941卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- G> A、T[展示侧翼]
- 染色体：
- 6:146433996（GRCh38）
6:146755132（GRCh37）
- 标准SPDI:
- NC_00006.12:146433995:G:A，NC_0000.6.12:146433995:G:T
- 基因：
- 克1(Varview公司)
- 功能后果：
- 编码_序列_变量、错义_变量、3_素数_UTR_变量
- 临床意义:
- 良性的，可能是恶性的
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
A=0.017714/5046(阿尔法)A=0.000106/2（托莫）A=0.006036/475（第页_STUDY）A=0.009994/50（1000个基因组）A=0.01102/2917（顶部）A=0.011707/1642（GnomAD）A=0.013215/49（TWINSUK公司）A=0.013455/175（GoESP）A=0.015742/21（HapMap）A=0.016518/74（爱沙尼亚语）A=0.018519/4（卡塔尔）A=0.01946/75（ALSPAC）A=0.022044/22（荷兰政府）A=0.023026/7（金融风险）A=0.024345/13（毫克）A=0.026667/16（瑞典北部）A=0.055357/62（达吉斯坦）G=0.5/1（西伯利亚语）G=0.5/5（SGDP_PRJ） - HGVS：
NC_ 000006.12:g.146433996G>美国,NC_ 000006.12:g.146433996G>T,NC_ 000006.11:g.146755132G>A,NC_ 000006.11:g.146755132G>T,NG_012839.2:g.411351G>A,NG_012839.2:g.411351G>T,NM_001278065.2：c.*149G>A,NM_001278065.2:c.*149G>T,NM_001278065.1:c.*149G>A,NM_001278065.1:c.*149G>温度,NM_001278064.2：c.2785G>A,NM_001278064.2：c.2785G>T,NM_001278064.1:c.2785G>A,NM_001278064.1:c.2785G>T,NM_001278066.1:c.*114G>A,NM_001278066.1:c.*114G>T,NM_001278067.1:c.*23G>A,NM_001278067.1:c.*23G>T,NM_000838.3:c.2785G>A,NM_000838.3:c.2785G>T,XM_017010784.2：c.2785G>A,XM_017010784.2:c.2785G>温度,XM_017010784.1:c.2785G>A,XM_017010784.1:c.2785G>温度,XM_011535782.2:c.2785G>A,XM_011535782.2:c.2785G>T,XM_011535782.1:c.2785G>A,XM_011535782.1:c.2785G>T,XM_017010783.2：约2785G>A,XM_017010783.2:c.2785G>温度,XM_017010783.1:c.2785G>A,XM_017010783.1:c.2785G>温度,XM_017010788.2:c.1558G>A,XM_017010788.2:c.1558G>T,XM_017010788.1:c.1558G>A,XM_017010788.1:c.1558G>T,NM_000838.2:c.2785G>A,NM_000838.2:c.2785G>T,NM_001114329.1:c.*149G>A,NM_001114329.1:c.*149G>T,NM_000838.1:c.2785G>A,NM_000838.1:c.2785G>T,NP_001264993.1：p.Val929Ile,NP_001264993.1：p.Val929Phe,XP_016866273.1：第Val929页,XP_016866273.1:p.Val929Phe,XP_011534084.1：第Val929页,XP_011534084.1：第Val929Phe页,XP_016866272.1：第Val929页,XP_016866272.1：p.Val929Phe,XP_016866277.1：p.Val520Ile,XP_016866277.1：p.Val520Phe
9
3025卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- C> A、G、T[展示侧翼]
- 染色体：
- 9:3825381（GRCh38）
9:3825381（GRCh37）
- 标准SPDI:
- NC_ 000009.12:3825380:C:A，NC_ 000009.12:3825380:C:G，NC_ 000009.12:3825380:C:T
- 基因：
- GLIS3公司(Varview公司)
- 功能后果：
- 3_prime_UTR_变量，genic_downstream_transcript_variant
- 临床意义:
- 温和的
- 已验证：
- 按频率、按alfa、按簇
- 镁合金：
G=0.00011/2(ALFA公司)T=0./0（TWINSUK公司）T=0.00018/3（托莫）T=0.00026/1（ALSPAC）T=0.00137/4（韩国）A=0.00201/9（爱沙尼亚语）G=0.00859/43（1000个基因组）G=0.01389/3（卡塔尔）G=0.01829/6（HapMap）G=0.01852/4（越南语）G=0.375/3（SGDP_PRJ） - HGVS：
NC_ 000009.12:g.3825381C>A,NC_ 000009.12:g.3825381C>g,NC_ 000009.12:g.3825381C>T,NC_ 000009.11:g.3825381C>A,NC_ 000009.11:g.3825381C>g公司,NC_ 000009.11:g.3825381C>T,NG_011782.2：g.479655G>T,NG_011782.2:g.479655G>C,NG_011782.2:g.479655G>A,NM_152629.4:c.*2891G>T,NM_152629.4:c.*2891G>c,NM_152629.4:c.*2891G>A,NM_152629.3:c.*2891G>T,NM_152629.3:c.*2891G>c,NM_152629.3:c.*2891G>A型,NM_001042413.2:c.*2891G>T,NM_001042413.2:c.*2891G>c,NM_001042413.2：c.*2891G>A,NM_001042413.1:c.*2891G>T,NM_001042413.1:c.*2891G>c,NM_001042413.1:c.*2891G>A,XM_005251386.5:c.*2891G>T,XM_005251386.5:c.*2891G>c,XM_005251386.5:c.*2891G>A,XM_005251386.4:c.*2891G>T,XM_005251386.4:c.*2891G>c,XM_005251386.4:c.*2891G>A,XM_005251386.3:c.*2891G>T,XM_005251386.3:c.*2891G>c,XM_005251386.3:c.*2891G>A,XM_005251386.2:c.*2891G>T,XM_005251386.2:c.*2891G>c,XM_005251386.2：c.*2891G>A,XM_005251386.1:c.*2891G>T,XM_005251386.1:c.*2891G>c,XM_005251386.1：c.*2891G>A,XM_011517766.3：c.*2891G>T,XM_011517766.3：c.*2891G>c,XM_011517766.3：c.*2891G>A,XM_011517766.2：c.*2891G>T,XM_011517766.2：c.*2891G>c,XM_011517766.2：c.*2891G>A,XM_011517766.1:c.*2891G>测试,XM_011517766.1:c.*2891G>c,XM_011517766.1:c.*2891G>A,XM_011517764.3:c.*2891G>T,XM_011517764.3:c.*2891G>c,XM_011517764.3:c.*2891G>A,XM_011517764.2：c.*2891G>T,XM_011517764.2：c.*2891G>c,XM_011517764.2：c.*2891G>A,XM_011517764.1:c.*2891G>T,XM_011517764.1:c.*2891G>摄氏度,XM_011517764.1：c.*2891G>A,XM_011517763.3:c.*2891G>T,XM_011517763.3:c.*2891G>c,XM_011517763.3：c.*2891G>A,XM_011517763.2：c.*2891G>T,XM_011517763.2：c.*2891G>c,XM_011517763.2:c.*2891G>答,XM_011517763.1:c.*2891G>T,XM_011517763.1:c.*2891G>c,XM_011517763.1:c.*2891G>A,XM_017014361.2：c.*2891G>T,XM_017014361.2：c.*2891G>c,XM_017014361.2：c.*2891G>A,XM_017014361.1:c.*2891G>T,XM_017014361.1:c.*2891G>c,XM_017014361.1:c.*2891G>A,XM_047422890.1:c.*2891G>T,XM_047422890.1:c.*2891G>c,XM_047422890.1:c.*2891G>A,XM_047422889.1:c.*2891G>T,XM_047422889.1:c.*2891G>c,XM_047422889.1：c.*2891G>A
10
3560卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- G> A、T[展示侧翼]
- 染色体：
- 14:24081123（GRCh38）
14:24550332（GRCh37）
- 标准SPDI:
- NC_000014.9:24081122:G:A，NC_000014.1:24081122：G:T
- 基因：
- 国家可再生能源研究所(瓦尔维尤)
- 功能后果：
- 3_基本_UTR_变量
- 临床意义:
- 可能发生
- 已验证：
- 按频率、按alfa、按集群
- 最大允许流量：
温度=0.004054/76(ALFA公司)T=0./0（HapMap）温度=0.001093/5（1000个基因组）T=0.001873/1（管理层）T=0.00504/1334（顶部）T=0.005823/817（GnomAD）T=0.008091/30（TWINSUK公司）温度=0.008333/5（瑞典北部）T=0.009821/44（爱沙尼亚语）温度=0.010379/40（ALSPAC） - HGVS：
NC_000014.9:g.24081123G>A,NC_000014.9:g.24081123G>T,NG_011697.2:g.38892C>T,NG_011697.2:g.38892C>A,NM_006177.5:c.*113C>T,NM_006177.5:c.*113C>A,NM_006177.4:c.*113C>T,NM_006177.4:c.*113C>A,NM_006177.3:c.*113C>T,NM_006177.3:c.*113C>A,NM_001354768.3:c.*113C>T,NM_001354768.3:c.*113C>A,NM_001354768.2:c.*113C>T,NM_001354768.2：c.*113C>A,NM_0013547681:c.*113C>T,NM_001354768.1:c.*113C>A,NM_001354770.2：c.*113C>T,NM_001354770.2：c.*113C>A,NM_001354770.1：c.*113C>T,NM_001354770.1：c.*113C>A,NM_001354769.1:c.*113C>T,NM_001354769.1：c.*113C>A,NW_018654722.1:g.382101G>A,NW_018654722.1:g.382101G>温度,NC_000014.8:g.24550332G>A,NC_000014.8:g.24550332G>T,XM_011536801.3：c.*113C>T,XM_011536801.3：c.*113C>A,XM_011536801.2:c.*113C>T,XM_011536801.2:c.*113C>A,XM_011536801.1:c.*113C>T,XM_011536801.1:c.*113C>A,XM_011536806.3:c.*113C>T,XM_011536806.3:c.*113C>A,XM_011536806.2:c.*113C>T,XM_011536806.2:c.*113C>A,XM_011536806.1:c.*113C>T,XM_011536806.1:c.*113C>A,XM_011536805.3:c.*113C>T,XM_011536805.3:c.*113C>A,XM_011536805.2:c.*113C>T,XM_011536805.2:c.*113C>A,XM_011536805.1:c.*113C>T,XM_011536805.1:c.*113C>A
12
rs4302型[智人]- 变量类型：
- SNV公司
- 等位基因：
- C> G、T[展示侧翼]
- 染色体：
- 17:63480461（GRCh38）
17:61557822（GRCh37）
- 标准SPDI:
- NC_000017.11:63480460:C:G，NC_00001711:63480460:C:T
- 基因：
- ACE公司(Varview公司)
- 功能后果：
- coding_sequence_variant、missense_variant、同义词variant、5_prime_UTR_variant、genic_upstream_transcript_variant
- 临床意义:
- 温和的
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
温度=0.000556/25(ALFA公司)T=0.001873/1（管理层）T=0.002077/522（GnomAD_exomes）T=0.00239/290（ExAC）T=0.00463/1（卡塔尔）电话=0.008385/1176（GnomAD）T=0.008432/42（1000个基因组）T=0.009346/2（越南语）T=0.009765/127（GoESP）C=0.5/3（SGDP_PRJ） - HGVS：
NC_000017.11:g.63480461C>g,NC_000017.11:g.63480461C>T,NC_000017.10:g.61557822C>g,NC_000017.10:g.61557822C>T,NG_011648.1:g.8389C>g,NG_011648.1:g.8389C>T,NM_000789.4:c.780C>G,NM_000789.4:c.780C>T,NM_000789.3:c.780C>G,NM_000789.3:c.780C>T,NM_0013827011:c.-73C>G,NM_001382701.1:c.-73C>T,NM_001382700.1:c.307C>G,NM_001382700.1:c.307C>T,NP_001369629.1:p.Arg103Gly公司,NP_001369629.1：p.Arg103Cys
13
4314卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- C> G、T[展示侧翼]
- 染色体：
- 17:63483943（GRCh38）
17:61561304（GRCh37）
- 标准SPDI:
- NC_000017.11:63483942:C:G，NC_00001711:63483942：C:T
- 基因：
- ACE公司(可变视图)
- 功能后果：
- genic_upstream_transcript_variant，编码序列变量，错义变量，上游转录变量
- 临床意义:
- 温和的
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
温度=0.000357/31(ALFA公司)T=0./0（HapMap）T=0./0（TWINSUK公司）T=0.000259/1（ALSPAC）T=0.00067/3（爱沙尼亚语）T=0.000778/195（GnomAD_exomes）温度=0.000996/118（ExAC）T=0.001845/2（PharmGKB）T=0.001874/9（1000个基因组）T=0.003159/443（GnomAD）T=0.003691/48（GoESP） - HGVS：
NC_000017.11:g.63483943C>g,NC_000017.11:g.63483943C>T,NC_000017.10:g.61561304C>g,NC_000017.10:g.61561304C>T,NG_011648.1:g.11871C>g,NG_011648.1:g.11871C>T,NM_000789.4:c.1681C>G,NM_000789.4：约1681C>T,NM_000789.3:c.1681C>G,NM_000789.3:c.1681C>温度,NM_0013827011:c.829C>G,NM_0013827011:c.829C>T,NM_001382700.1:c.1114C>G,NM_001382700.1:c.1114C>T,NP_000780.1：p.Arg561Gly,NP_000780.1:p.Arg561Trp,NP_001369630.1:p.Arg277Gly公司,NP_001369630.1:p.Arg277Trp,NP_001369629.1：p.Arg372Gly,NP_001369629.1：p.Arg372Trp
14
4348卢比[智人]- 变体类型：
- SNV公司
- 等位基因：
- C> T型[展示侧翼]
- 染色体：
- 17:63491256（GRCh38）
17:61568617（GRCh37）
- 标准SPDI:
- NC_000017.11:63491255:C:T（中文）
- 基因：
- ACE公司(Varview公司)
- 功能后果：
- 非编码转换变量、编码序列变量、同义词变量
- 临床意义:
- 温和的
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
T=0.00308/181(ALFA公司)T=0.002211/556（GnomAD_exomes）T=0.002819/342（ExAC）T=0.009057/45（1000个基因组）T=0.009171/1286（GnomAD）T=0.009303/121（GoESP）T=0.009562/2531（顶部）温度=0.013889/3（卡塔尔）T=0.022727/2（制药GKB）C=0.5/1（SGDP_PRJ） - HGVS：
NC_000017.11:g.63491256C>T,NC_000017.10:g.61568617C>T,NG_011648.1:g.19184C>T,NM_000789.4:c.2787C>T,NM_000789.3:c.2787C>T,NM_152830.3:c.1065C>温度,NM_152830.2:c.1065C>T,NM_001178057.2：约1065C>T,NM_001178057.1:c.1065C>T,NM_001382701.1:c.1935C>T,NM_001382700.1:c.2220C>T,NR_168483.1:n.1165C>T,NM_001382702.1:c.525C>T,XM_006721737.4:c.717C>T,XM_006721737.3:c.1125C>T,XM_006721737.2:c.1125C>T,XM_006721737.1:c.717C>T,NM_152831.1:约1065C>T
18
4753卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- G> A、C[展示侧翼]
- 染色体：
- 1:230702983（GRCh38）
1:230838729（GRCh37）
- 标准SPDI:
- NC_0000001.11:230702982:G:A，NC_00001.11:230302982:G:C
- 基因：
- AGT公司(Varview公司)
- 功能后果：
- 3_基本_UTR_变量
- 临床意义:
- 温和的
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
C=0.00014/2(阿尔法)C=0./0（ALSPAC）A=0.00007/2（托莫）C=0.00027/1（TWINSUK公司）A=0.00034/1（韩国）C=0.002/2（荷兰政府）C=0.00463/1（卡塔尔）C=0.00937/47（1000个基因组）C=0.01064/1（PharmGKB）C=0.01869/4（越南语）G=0.5/6（SGDP_PRJ） - HGVS：
NC_ 000001.11:g.230702983G>A,NC_ 000001.11:g.230702983G>C,NC_ 000001.10:g.230838729G>A,NC_ 000001.10:g.230838729G>C,NG_008836.2:g.16608C>T,NG_008836.2：g.16608C>g,NM_000029.4:c.*158C>T,NM_000029.4:c.*158C>G,NM_001382817.1:c.*158C>T,NM_001382817.1:c.*158C>G,NM_001382817.3:c.*158C>T,NM_001382817.3:c.*158C>G,NM_001382817.2:c.*158C>T,NM_001382817.2:c.*158C>G,NM_000029.3:c.*158C>T,NM_000029.3:c.*158C>G,NM_001384479.1:c.*158C>T,NM_001384479.1：c.*158C>G
20
4819卢比[智人]- 变量类型：
- SNV公司
- 等位基因：
- G> A类[展示侧翼]
- 染色体：
- 19:40378026（GRCh38）
19:40883933（GRCh37）
- 标准SPDI:
- NC_000019.10:40378025:G:A（中文）
- 基因：
- 可编程逻辑器件3(Varview公司)
- 功能后果：
- 编码序列变量，同义词变量
- 临床意义:
- 可能发生
- 已验证：
- 按频率、按alfa、按簇
- 最大允许流量：
A=0.014096/706(ALFA公司)A=0.001451/24（托莫）A=0.004878/3（越南语）A=0.005483/16（韩国）A=0.008734/16（韩国1K）A=0.008745/44（1000个基因组）A=0.009259/2（卡塔尔）A=0.009868/3（金融风险）A=0.011843/154（GoESP）A=0.012567/1515（ExAC）A=0.012887/3411（顶部）A=0.01328/3327（GnomAD_exomes）A=0.013289/1863（GnomAD）A=0.016667/10（瑞典北部）A=0.016741/75（爱沙尼亚语）A=0.018941/73（ALSPAC）A=0.019148/71（TWINSUK）A=0.020599/11（管理层）A=0.028056/28（荷兰政府）G=0.33333/2（SGDP_PRJ）G=0.5/1（西伯利亚语） - HGVS：
NC_000019.10:g.40378026G>A,NC_000019.9:g.40883933G>A,NG_034098.1:g.34602G>A,NM_012268.4:c.1326G>A,NM_012268.3:c.1326G>A,NM_012268.2:c.1326G>A,NM_001031696.4:c.1326G>A,NM_001031696.3:c.1326G>A,NM_001031696.2:c.1326G>A,NM_001291311.2：c.1326G>A,NM_001291311.1:c.1326G>A,NG_051224.1:g.17196C>T