1
rs1491557443[智人]- 变量类型:
- INS(惯性导航系统)
- 等位基因:
- ->TTA、TTTTT A、TTttTTT AAA[展示侧翼]
- 染色体:
- 1:17042979(GRCh38)
1比17369475(GRCh37)
- 标准SPDI:
- NC_ 000001.11:17042979::TTA,NC_ 000000.11:17042799::ttTTT A,NC_00001.11:17042879::TTTTT AAA
- 基因:
- SDHB公司(Varview公司)
- 功能后果:
- 内含子变体
- 已验证:
- 按群集
- HGVS:
NC_ 000001.11:g.17042979_17042980英寸TTA,NC_ 000001.11:g.17042979_17042980英寸TTTTTA,NC_ 000001.11:g.17042979_17042980英寸TTTTTAAA,NC_ 000001.10:g.17369474_17369475英寸TTA,NC_ 000001.10:g.17369474_17369475英寸TTTTTA,NC_ 000001.10:g.17369474_17369475英寸TTTTTAAA,NG_012340.1:g.16191_16192insTAA,NG_012340.1:g.16191_16192insTAAAAA,NG_012340.1:g.16191_16192insTTTAAAAAAA,NW_025791756.1:g.1458170_1458171英寸TTA,NW_025791756.1:g.1458170_1458171英寸TTTTTA,NW_025791756.1:g.1458170_1458171英寸TTTTTAAA
5
rs1491238412已并入397835910卢比[智人]- 变量类型:
- 德林
- 等位基因:
- TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTT TTTTTTTT、TTTTTTT、TTTT,TTTTTTTT TTTTTTttTTTTTTT、TTTTTTtt TTTTTTPT、TTTTttttTTTT、TTTT TTTTTTTTttTTTTTTT、TTTTTT、TTTT,TTTTTTTTttTTTTTTtt TTTTTT TTTTTTT、TTTTTTTITTTTTTT/TTTTTTT.TTTTTTTTTTTTTTS、TTTTttttTTTT、TTTT TTTTTTTT,,TTTTTTTTttTTTTTT,TTTTTTTTttTTTTTT[展示侧翼]
- 染色体:
- 1:17049659(GRCh38)
1:17376154(GRCh37)
- 标准SPDI:
- NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTT.,NC_ 000001.11:1704647:TTTTTTtt TTTTTTT/TTTTTTT:TTTTT,NC_ 0.000.11:17049667:TTTTTTTTTTTT,NC_00001.11:170447:TTTT TTTTTTTT:TTTTTTTTTTTTT,NC_ 000001.11:17049647:TTTTTTTTttTTTTTTTCTTTTTTTTTTTTTT,NC_ 00000 1.11:1704647:TTTTTTBTTTTTTT,TTTTTTtt,NC_ 000001.11:17049647:ttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttttt,NC_ 000001.11:17049647:TTTTTTTTttTTTTTTTCTTTTTTTTTTTTTT,NC_ 00000 1.11:1704647:TTTTTT,TTTTTTtt,TTTTT TTTTTTTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTTT TTTTTTTTTTTTT,NC_ 000001 1.11:1704647:TTTTTTT/TTTTTTTCTTTTTTtt,NC_ 0000 1.11:170447:TTTTT TTTTTTTT,NC_ 000001.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTTCTTTTTTtt,NC_ 00000 1.11:1704647:TTTTTTBTTTTTTTT/TTTTTTTDTTTTTT:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt,NC_ 000001.11:170467:TTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT.,NC_ 000001.11:1704647:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT/TTTTTTTDTTTTTTTTTTTTTT.,NC_ 000001.11:1704647:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt TTTTTTT/TTTTTTTCTTTTTTTTTTTTTT.,NC_ 000001.11:1704647:TTTTTTTDTTTTTTBTTTTTTTTLTTTTTT:TTTTttttTTTTtttt TTTT,NC_00000 1.11-17049647:TTTTTTNTTTTTTT:TTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT/TTTTTTT.,NC_ 000001.11:1704647:TTTTTTTSTTTTTTBTTTTTTTTDTTTTTTTLTTTTTT:TTTT、,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTTT:TTTTTTtt TTTTTTTITTTTTTTCTTTTTTT/TTTTTTT.,NC_ 000001.11:1704647:TTTTTTBTTTTTTTTFTTTTTTTDTTTTTTTLTTTTTT:TTTTTTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt TTTTTTTCTTTTTTT/TTTTTTTDTTTTTTT.TTTTTTTTTTTTTTFTTTTTTTLTTTTTTTSTTTTTT:TTTTTTTTttTTTTTT,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTTITTTTTTtt TTTTTTTCTTTTTTT/TTTTTTTTTTTTTBTTTTTTTTDTTTTTTTFTTTTTTT.TTTTTTTLTTTTTTTSTTTTTT:TTTTTTT-TTTTTTNTTTTTTT:TTTTTTRTTTTTTTCTTTTTTTGTTTTTTT,NC_ 000001.11:170447:TTTT TTTTTTTT,NC_ 000001.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:TTTTTTT/TTTTTTtt TTTTTTTITTTTTTBTTTTTTTTTTTTTTTCTTTTTTTDTTTTTTTFTTTTTTT.TTTTTTTSTTTTTTTLTTTTTT:,NC_ 00000 1.11:17049647:TTTTTTTTttTTTTTT TTTTTTT TTTTTT:
- 基因:
- SDHB公司(Varview公司)
- 功能后果:
- 内含子变异体
- 已验证:
- 按频率、按alfa、按簇
- 最大允许流量:
- HGVS:
NC_ 000001.11:g.17049659_17049677del,NC_ 000001.11:g.17049660_17049677del,NC_ 000001.11:g.17049661_17049677删除,NC_ 000001.11:g.17049662_17049677型号,NC_ 000001.11:g.17049663_17049677del,NC_ 000001.11:g.17049664_17049677del,NC_ 000001.11:g.17049665_17049677del,NC_ 000001.11:g.17049666_17049677del,NC_ 000001.11:g.17049667_17049677del,NC_ 000001.11:g.17049668_17049677del,NC_ 000001.11:g.17049669_17049677型号,NC_ 000001.11:g.17049670_17049677del,NC_ 000001.11:g.17049671_17049677删除,NC_ 000001.11:g.17049672_17049677删除,NC_ 000001.11:g.17049673_17049677del,NC_ 000001.11:g.17049674_17049677型号,NC_ 000001.11:g.17049675_17049677del,NC_ 000001.11:g.17049676_17049677del,NC_ 000001.11:g.17049677删除,NC_ 000001.11:g.17049677dup,NC_ 000001.11:g.17049676_17049677复制,NC_ 000001.11:g.17049675_17049677复制,NC_ 000001.11:g.17049674_17049677复制,NC_ 000001.11:g.17049673_17049677复制,NC_ 000001.11:g.17049672_17049677重复,NC_ 000001.11:g.17049671_17049677重复,NC_ 000001.11:g.17049670_17049677dup,NC_ 000001.11:g.17049669_17049677复制,NC_ 000001.11:g.17049668_17049677复制,NC_ 000001.11:g.17049667_17049677dup,NC_ 000001.11:g.17049666_17049677dup,NC_ 000001.11:g.17049665_17049677复制,NC_ 000001.11:g.17049664_17049677复制,NC_ 000001.11:g.17049663_17049677复制,NC_ 000001.11:g.17049662_17049677重复,NC_ 000001.11:g.17049661_17049677重复,NC_ 000001.11:g.17049660_17049677dup,NC_ 000001.11:g.17049659_17049677复制,NC_ 000001.11:g.17049658_17049677复制,NC_ 000001.11:g.17049657_17049677dup,NC_ 000001.11:g.17049656_17049677复制,NC_ 000001.11:g.17049655_17049677重复,NC_ 000001.11:g.17049654_17049677复制,NC_ 000001.11:g.17049653_17049677复制,NC_ 000001.11:g.17049652_17049677重复,NC_ 000001.11:g.17049651_17049677重复,NC_ 000001.11:g.17049648_17049677复制,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.11:g.17049677_17049678英寸,NC_ 000001.10:g.17376154_17376172del,NC_ 000001.10:g.17376155_17376172电话,NC_ 000001.10:g.17376156_17376172del,NC_ 000001.10:g.17376157_17376172del,NC_ 000001.10:g.17376158_17376172del,NC_ 000001.10:g.17376159_17376172del,NC_ 000001.10:g.17376160_17376172del,NC_ 000001.10:g.17376161_17376172del,NC_ 000001.10:g.17376162_17376172del,NC_ 000001.10:g.17376163_17376172del,NC_ 000001.10:g.17376164_17376172del,NC_ 000001.10:g.17376165_17376172del,NC_ 000001.10:g.17376166_17376172del,NC_ 000001.10:g.17376167_17376172del,NC_ 000001.10:g.17376168_17376172del,NC_ 000001.10:g.17376169_17376172del,NC_ 000001.10:g.17376170_17376172del,NC_ 000001.10:g.17376171_17376172del,NC_ 000001.10:g.17376172del,NC_ 000001.10:g.17376172dup,NC_ 000001.10:g.17376171_17376172dup,NC_ 000001.10:g.17376170_17376172dup,NC_ 000001.10:g.17376169_17376172dup,NC_ 000001.10:g.17376168_17376172dup,NC_ 000001.10:g.17376167_17376172dup,NC_ 000001.10:g.17376166_17376172dup,NC_ 000001.10:g.17376165_17376172dup,NC_ 000001.10:g.17376164_17376172以上,NC_ 000001.10:g.17376163_17376172dup,NC_ 000001.10:g.17376162_17376172dup,NC_ 000001.10:g.17376161_17376172dup,NC_ 000001.10:g.17376160_17376172dup,NC_ 000001.10:g.17376159_17376172dup,NC_ 000001.10:g.17376158_17376172dup,NC_ 000001.10:g.17376157_17376172以上,NC_ 000001.10:g.17376156_17376172dup,NC_ 000001.10:g.17376155_17376172dup,NC_ 000001.10:g.17376154_17376172dup,NC_ 000001.10:g.17376153_17376172dup,NC_ 000001.10:g.17376152_17376172以上,NC_ 000001.10:g.17376151_17376172dup,NC_ 000001.10:g.17376150_17376172dup,NC_ 000001.10:g.17376149_17376172dup,NC_ 000001.10:g.17376148_17376172dup,NC_ 000001.10:g.17376147_17376172dup,NC_ 000001.10:g.17376146_17376172dup,NC_ 000001.10:g.17376143_17376172dup,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NC_ 000001.10:g.17376172_17376173英寸,NG_012340.1:g.9505_9523删除,NG_012340.1:g.9506_9523删除,NG_012340.1:g.9507_9523删除,NG_012340.1:g.9508_9523删除,NG_012340.1:g.9509_9523删除,NG_012340.1:g.9510_9523删除,NG_012340.1:g.9511_9523删除,NG_012340.1:g.9512_9523删除,NG_012340.1:g.9513_9523删除,NG_012340.1:g.9514_9523删除,NG_012340.1:g.9515_9523删除,NG_012340.1:g.9516_9523删除,NG_012340.1:g.9517_9523删除,NG_012340.1:g.9518_9523德尔,NG_012340.1:g.9519_9523删除,NG_012340.1:g.9520_9523删除,NG_012340.1:g.9521_9523删除,NG_012340.1:g.9522_9523删除,NG_012340.1:g.9523删除,NG_012340.1:g.9523复制,NG_012340.1:g.9522_9523重复,NG_012340.1:g.9521_9523重复,NG_012340.1:g.9520_9523重复,NG_012340.1:g.9519_9523重复,NG_012340.1:g.9518_9523重复,NG_012340.1:g.9517_9523重复,NG_012340.1:g.9516_9523重复,NG_012340.1:g.9515_9523重复,NG_012340.1:g.9514_9523重复,NG_012340.1:g.9513_9523重复,NG_012340.1:g.9512_9523重复,NG_012340.1:g.9511_9523重复,NG_012340.1:g.9510_9523重复,NG_012340.1:g.9509_9523重复,NG_012340.1:g.9508_9523重复,NG_012340.1:g.9507_9523重复,NG_012340.1:g.9506_9523重复,NG_012340.1:g.9505_9523重复,NG_012340.1:g.9504_9523重复,NG_012340.1:g.9503_9523重复,NG_012340.1:g.9502_9523重复,NG_012340.1:g.9501_9523重复,NG_012340.1:g.9500_9523复制,NG_012340.1:g.9499_9523重复,NG_012340.1:g.9498_9523重复,NG_012340.1:g.9497_9523重复,NG_012340.1:g.9494_9523重复,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524英寸,NG_012340.1:g.9523_9524在AAAAAAAA中,NW_025791756.1:g.1464868复制,NW_025791756.1:g.1464851_1464868删除,NW_025791756.1:g.1464852_1464868德尔,NW_025791756.1:g.1464853_1464868德尔,NW_025791756.1:g.1464854_1464868德尔,NW_025791756.1:g.1464855_1464868德尔,NW_025791756.1:g.1464856_1464868del公司,NW_025791756.1:g.1464857_1464868删除,NW_025791756.1:g.1464858_1464868删除,NW_025791756.1:g.1464859_1464868德尔,NW_025791756.1:g.1464860_1464868德尔,NW_025791756.1:g.14648661_1464868del公司,NW_025791756.1:g.1464862_1464868德尔,NW_025791756.1:g.1464863_1464868删除,NW_025791756.1:g.1464864_1464868删除,NW_025791756.1:g.1464865_1464868德尔,NW_025791756.1:g.1464866_1464868德尔,NW_025791756.1:g.1464867_1464868德尔,NW_025791756.1:g.1464868删除,NW_025791756.1:g.1464867_1464868复制,NW_025791756.1:g.1464866_1464868复制,NW_025791756.1:g.1464865_1464868复制,NW_025791756.1:g.1464864_1464868复制,NW_025791756.1:g.1464863_1464868复制,NW_025791756.1:g.1464862_1464868复制,NW_025791756.1:g.1464861_1464868复制,NW_025791756.1:g.1464860_1464868复制,NW_025791756.1:g.1464859_1464868复制,NW_025791756.1:g.1464858_1464868复制,NW_025791756.1:g.1464857_1464868复制,NW_025791756.1:g.1464856_1464868复制,NW_025791756.1:g.1464855_1464868复制,NW_025791756.1:g.1464854_1464868复制,NW_025791756.1:g.1464853_1464868复制,NW_025791756.1:g.1464852_1464868复制,NW_025791756.1:g.1464851_1464868复制,NW_025791756.1:g.1464850_1464868复制,NW_025791756.1:g.1464849_1464868以上,NW_025791756.1:g.1464848_1464868复制,NW_025791756.1:g.1464847_1464868复制,NW_025791756.1:g.1464846_1464868复制,NW_025791756.1:g.1464845_1464868复制,NW_025791756.1:g.1464844_1464868复制,NW_025791756.1:g.1464843_1464868复制,NW_025791756.1:g.1464842_1464868重复,NW_025791756.1:g.1464841_1464868复制,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NW_025791756.1:g.1464868_1464869英寸,NW_025791756.1:g.1464868_1464869英寸
6
rs1491130133已并入rs1408023385[智人]- 变量类型:
- DELINS公司
- 等位基因:
- AGAG>-、AG、AGAGAG[展示侧翼]
- 染色体:
- 1:17047703(GRCh38)
1:17374198(GRCh37)
- 标准SPDI:
- NC_00001.11:17047696:AGAGAGAG:AGAGAG,NC_0000.111:17047666:AGAGAGAG:AGGAGAG,NC_0000001.11:17044696:AGGAGAG:AGAGGAGAGAG
- 基因:
- SDHB公司(Varview公司)
- 功能后果:
- 内含子变异体
- 已验证:
- 按频率、按alfa、按簇
- 最大允许流量:
AGAGAGAG=0./0(ALFA公司)AG=0.000035/1(托莫)-=0.000178/47(顶部) - HGVS:
NC_ 000001.11:g.17047697AG[3],NC_ 000001.11:g.17047697AG[4],NC_ 000001.11:g.17047697AG[6],NC_ 000001.10:g.17374192AG[3],编号000001.10:g.17374192AG[4],NC_ 000001.10:g.17374192AG[6],NG_012340.1:g.11465CT[3],NG_012340.1:g.11465CT【4】,NG_012340.1:g.11465CT[6],西北_025791756.1:g.1462889AG[3],NW_025791756.1:g.1462889AG【4】,NW_025791756.1:g.1462889AG[6]
19
rs1490320388已合并为34561776卢比[智人]- 变量类型:
- DELINS公司
- 等位基因:
- AAAAAAAAA>-、AA、AAAA、AAAAA、AAAAAAAA、[展示侧翼]
- 染色体:
- 1:17039427(GRCh38)
1:17365922(GRCh37)
- 标准SPDI:
- NC_000001.11:17039415:AAAAAAAAAA AAAAAAAAAAAAAAA,NC_00001.11:17039 415:AAAA AAAA AAA AAAAAA,NC_0000001.11:170 39415:,NC_00001.11:17039415:AAAAAAAAAA:AAAAAA3AAAAAAAA,NC_0000.11:17039415:AAAAAA,AAAAAAaaAAAAAAAEAAAAAA,NC_0000001.11:17039 AAAAAAAAAA:,NC_00001.11:17039415:AAAAAAAAAA AAAAAAaaAAAAAAA,NC_0000.11:17039415,AAAAAA3AAAAAAAAEAAAAAA,NC_0000001.11:17039,AAAAAA
- 基因:
- SDHB公司(Varview公司)
- 功能后果:
- 内含子变异体
- 已验证:
- 按频率、按alfa、按簇
- 最大允许流量:
AAAAAAAAAA=0./0(ALFA公司)-=0.000008/2(顶部) - HGVS:
NC_ 000001.11:g.17039427_17039437del,NC_ 000001.11:g.17039429_17039437删除,NC_ 000001.11:g.17039431_17039437型号,NC_ 000001.11:g.17039432_17039437删除,NC_ 000001.11:g.17039435_17039437删除,NC_ 000001.11:g.17039436_17039437删除,NC_ 000001.11:g.17039437删除,NC_ 000001.11:g.17039437dup,NC_ 000001.11:g.17039436_17039437dup,NC_ 000001.11:g.17039435_17039437重复,NC_ 000001.11:g.17039434_17039437dup,NC_ 000001.11:g.17039433_17039437dup,NC_ 000001.11:g.17039432_17039437复制,NC_ 000001.10:g.17365922_17365932删除,NC_ 000001.10:g.17365924_17365932电话,NC_ 000001.10:g.17365926_17365932删除,NC_ 000001.10:g.17365927_17365932删除,NC_ 000001.10:g.17365930_17365932删除,NC_ 000001.10:g.17365931_17365932删除,NC_ 000001.10:g.17365932del,NC_ 000001.10:g.17365932dup,NC_ 000001.10:g.17365931_17365932复制,NC_ 000001.10:g.17365930_17365932复制,NC_ 000001.10:g.17365929_17365932复制,NC_ 000001.10:g.17365928_17365932复制,NC_ 000001.10:g.17365927_17365932复制,NG_012340.1:g.19745_19755德尔,NG_012340.1:g.19747_19755德尔,NG_012340.1:g.19749_19755德尔,NG_012340.1:g.19750_19755德尔,NG_012340.1:g.19753_19755德尔,NG_012340.1:g.19754_19755德尔,NG_012340.1:g.19755del,NG_012340.1:g.19755dup,NG_012340.1:g.19754_19755dup,NG_012340.1:g.19753_19755dup,NG_012340.1:g.19752_19755dup,NG_012340.1:g.19751_19755dup,NG_012340.1:g.19750_19755dup,NW_025791756.1:g.1454620_1454630删除,NW_025791756.1:g.1454622_1454630电话,NW_025791756.1:g.1454624_1454630删除,NW_025791756.1:g.1454625_1454630删除,NW_025791756.1:g.1454628_1454630删除,NW_025791756.1:g.1454629_1454630删除,NW_025791756.1:g.1454630删除,NW_025791756.1:g.1454630dup,NW_025791756.1:g.1454629_1454630重复,NW_025791756.1:g.1454628_1454630复制,NW_025791756.1:g.1454627_1454630复制,NW_025791756.1:g.1454626_1454630复制,NW_025791756.1:g.1454625_1454630复制