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Select item 14915892561.

rs1491589256 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 10:42806738 (GRCh38)
10:43302187 (GRCh37)
Canonical SPDI:: NC_000010.11:42806738:A:AGA
Gene:: BMS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0.000071/1 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.42806739_42806740insGA, NC_000010.10:g.43302187_43302188insGA, NG_046921.1:g.29234_29235insGA

Select item 14914994142.

rs1491499414 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 10:42811521 (GRCh38)
10:43306970 (GRCh37)
Canonical SPDI:: NC_000010.11:42811521:TT:TTCTT
Gene:: BMS1 (Varview), LOC124902575 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00143/17 (ALFA)
TTC=0.00517/380 (GnomAD)
HGVS:: NC_000010.11:g.42811523_42811524insCTT, NC_000010.10:g.43306971_43306972insCTT, NG_046921.1:g.34018_34019insCTT

Select item 14914827863.

rs1491482786 has merged into rs879940551 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:42811524 (GRCh38)
10:43306972 (GRCh37)
Canonical SPDI:: NC_000010.11:42811520:TTTTT:TTT,NC_000010.11:42811520:TTTTT:TTTT,NC_000010.11:42811520:TTTTT:TTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42811520:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BMS1 (Varview), LOC124902575 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.42811524_42811525del, NC_000010.11:g.42811525del, NC_000010.11:g.42811525dup, NC_000010.11:g.42811524_42811525dup, NC_000010.11:g.42811523_42811525dup, NC_000010.11:g.42811522_42811525dup, NC_000010.11:g.42811521_42811525dup, NC_000010.11:g.42811525_42811526insTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.42811525_42811526insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.43306972_43306973del, NC_000010.10:g.43306973del, NC_000010.10:g.43306973dup, NC_000010.10:g.43306972_43306973dup, NC_000010.10:g.43306971_43306973dup, NC_000010.10:g.43306970_43306973dup, NC_000010.10:g.43306969_43306973dup, NC_000010.10:g.43306973_43306974insTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.43306973_43306974insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046921.1:g.34019_34020del, NG_046921.1:g.34020del, NG_046921.1:g.34020dup, NG_046921.1:g.34019_34020dup, NG_046921.1:g.34018_34020dup, NG_046921.1:g.34017_34020dup, NG_046921.1:g.34016_34020dup, NG_046921.1:g.34020_34021insTTTTTT, NG_046921.1:g.34020_34021insTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046921.1:g.34020_34021insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913738804.

rs1491373880 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTGT,TTGT,TTGTGT,TTGTGTGT,TTGTGTGTGT [Show Flanks]
Chromosome:: 10:42826237 (GRCh38)
10:43321686 (GRCh37)
Canonical SPDI:: NC_000010.11:42826237:T:TTGTGT,NC_000010.11:42826237:T:TTTGT,NC_000010.11:42826237:T:TTTGTGT,NC_000010.11:42826237:T:TTTGTGTGT,NC_000010.11:42826237:T:TTTGTGTGTGT
Gene:: BMS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTGT=0./0 (ALFA)
HGVS:: NC_000010.11:g.42826238_42826239insTGTGT, NC_000010.11:g.42826238_42826239insTTGT, NC_000010.11:g.42826238_42826239insTTGTGT, NC_000010.11:g.42826238_42826239insTTGTGTGT, NC_000010.11:g.42826238_42826239insTTGTGTGTGT, NC_000010.10:g.43321686_43321687insTGTGT, NC_000010.10:g.43321686_43321687insTTGT, NC_000010.10:g.43321686_43321687insTTGTGT, NC_000010.10:g.43321686_43321687insTTGTGTGT, NC_000010.10:g.43321686_43321687insTTGTGTGTGT, NG_046921.1:g.48733_48734insTGTGT, NG_046921.1:g.48733_48734insTTGT, NG_046921.1:g.48733_48734insTTGTGT, NG_046921.1:g.48733_48734insTTGTGTGT, NG_046921.1:g.48733_48734insTTGTGTGTGT

Select item 14913306695.

rs1491330669 has merged into rs35466848 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:42806750 (GRCh38)
10:43302198 (GRCh37)
Canonical SPDI:: NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:42806737:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BMS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.42806750_42806759del, NC_000010.11:g.42806751_42806759del, NC_000010.11:g.42806752_42806759del, NC_000010.11:g.42806753_42806759del, NC_000010.11:g.42806754_42806759del, NC_000010.11:g.42806755_42806759del, NC_000010.11:g.42806756_42806759del, NC_000010.11:g.42806757_42806759del, NC_000010.11:g.42806758_42806759del, NC_000010.11:g.42806759del, NC_000010.11:g.42806759dup, NC_000010.11:g.42806758_42806759dup, NC_000010.11:g.42806757_42806759dup, NC_000010.11:g.42806756_42806759dup, NC_000010.11:g.42806755_42806759dup, NC_000010.11:g.42806754_42806759dup, NC_000010.11:g.42806753_42806759dup, NC_000010.11:g.42806752_42806759dup, NC_000010.10:g.43302198_43302207del, NC_000010.10:g.43302199_43302207del, NC_000010.10:g.43302200_43302207del, NC_000010.10:g.43302201_43302207del, NC_000010.10:g.43302202_43302207del, NC_000010.10:g.43302203_43302207del, NC_000010.10:g.43302204_43302207del, NC_000010.10:g.43302205_43302207del, NC_000010.10:g.43302206_43302207del, NC_000010.10:g.43302207del, NC_000010.10:g.43302207dup, NC_000010.10:g.43302206_43302207dup, NC_000010.10:g.43302205_43302207dup, NC_000010.10:g.43302204_43302207dup, NC_000010.10:g.43302203_43302207dup, NC_000010.10:g.43302202_43302207dup, NC_000010.10:g.43302201_43302207dup, NC_000010.10:g.43302200_43302207dup, NG_046921.1:g.29245_29254del, NG_046921.1:g.29246_29254del, NG_046921.1:g.29247_29254del, NG_046921.1:g.29248_29254del, NG_046921.1:g.29249_29254del, NG_046921.1:g.29250_29254del, NG_046921.1:g.29251_29254del, NG_046921.1:g.29252_29254del, NG_046921.1:g.29253_29254del, NG_046921.1:g.29254del, NG_046921.1:g.29254dup, NG_046921.1:g.29253_29254dup, NG_046921.1:g.29252_29254dup, NG_046921.1:g.29251_29254dup, NG_046921.1:g.29250_29254dup, NG_046921.1:g.29249_29254dup, NG_046921.1:g.29248_29254dup, NG_046921.1:g.29247_29254dup

Select item 14912753706.

rs1491275370 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:42809952 (GRCh38)
10:43305400 (GRCh37)
Canonical SPDI:: NC_000010.11:42809951:AT:
Gene:: BMS1 (Varview), LOC124902575 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.42809952_42809953del, NC_000010.10:g.43305400_43305401del, NG_046921.1:g.32447_32448del

Select item 14912192457.

rs1491219245 has merged into rs34512002 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 10:42811058 (GRCh38)
10:43306506 (GRCh37)
Canonical SPDI:: NC_000010.11:42811049:TTTTTTTTTT:TTTTTTTT,NC_000010.11:42811049:TTTTTTTTTT:TTTTTTTTT,NC_000010.11:42811049:TTTTTTTTTT:TTTTTTTTTTT
Gene:: BMS1 (Varview), LOC124902575 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.376667/226 (NorthernSweden)
-=0.388428/1497 (ALSPAC)
-=0.4/16 (GENOME_DK)
-=0.404531/1500 (TWINSUK)
T=0.454694/833 (Korea1K)
T=0.455202/7629 (TOMMO)
-=0.480403/127158 (TOPMED)
HGVS:: NC_000010.11:g.42811058_42811059del, NC_000010.11:g.42811059del, NC_000010.11:g.42811059dup, NC_000010.10:g.43306506_43306507del, NC_000010.10:g.43306507del, NC_000010.10:g.43306507dup, NG_046921.1:g.33553_33554del, NG_046921.1:g.33554del, NG_046921.1:g.33554dup

Select item 14911967348.

rs1491196734 has merged into rs34656411 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:42809966 (GRCh38)
10:43305414 (GRCh37)
Canonical SPDI:: NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:42809952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BMS1 (Varview), LOC124902575 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.42809966_42809974del, NC_000010.11:g.42809967_42809974del, NC_000010.11:g.42809968_42809974del, NC_000010.11:g.42809969_42809974del, NC_000010.11:g.42809970_42809974del, NC_000010.11:g.42809971_42809974del, NC_000010.11:g.42809972_42809974del, NC_000010.11:g.42809973_42809974del, NC_000010.11:g.42809974del, NC_000010.11:g.42809974dup, NC_000010.11:g.42809973_42809974dup, NC_000010.11:g.42809972_42809974dup, NC_000010.11:g.42809971_42809974dup, NC_000010.11:g.42809970_42809974dup, NC_000010.11:g.42809969_42809974dup, NC_000010.11:g.42809968_42809974dup, NC_000010.11:g.42809966_42809974dup, NC_000010.11:g.42809965_42809974dup, NC_000010.11:g.42809954_42809974dup, NC_000010.11:g.42809974_42809975insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.43305414_43305422del, NC_000010.10:g.43305415_43305422del, NC_000010.10:g.43305416_43305422del, NC_000010.10:g.43305417_43305422del, NC_000010.10:g.43305418_43305422del, NC_000010.10:g.43305419_43305422del, NC_000010.10:g.43305420_43305422del, NC_000010.10:g.43305421_43305422del, NC_000010.10:g.43305422del, NC_000010.10:g.43305422dup, NC_000010.10:g.43305421_43305422dup, NC_000010.10:g.43305420_43305422dup, NC_000010.10:g.43305419_43305422dup, NC_000010.10:g.43305418_43305422dup, NC_000010.10:g.43305417_43305422dup, NC_000010.10:g.43305416_43305422dup, NC_000010.10:g.43305414_43305422dup, NC_000010.10:g.43305413_43305422dup, NC_000010.10:g.43305402_43305422dup, NC_000010.10:g.43305422_43305423insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046921.1:g.32461_32469del, NG_046921.1:g.32462_32469del, NG_046921.1:g.32463_32469del, NG_046921.1:g.32464_32469del, NG_046921.1:g.32465_32469del, NG_046921.1:g.32466_32469del, NG_046921.1:g.32467_32469del, NG_046921.1:g.32468_32469del, NG_046921.1:g.32469del, NG_046921.1:g.32469dup, NG_046921.1:g.32468_32469dup, NG_046921.1:g.32467_32469dup, NG_046921.1:g.32466_32469dup, NG_046921.1:g.32465_32469dup, NG_046921.1:g.32464_32469dup, NG_046921.1:g.32463_32469dup, NG_046921.1:g.32461_32469dup, NG_046921.1:g.32460_32469dup, NG_046921.1:g.32449_32469dup, NG_046921.1:g.32469_32470insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911090309.

rs1491109030 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 10:42811050 (GRCh38)
10:43306499 (GRCh37)
Canonical SPDI:: NC_000010.11:42811050:T:TAT
Gene:: BMS1 (Varview), LOC124902575 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0.000843/10 (ALFA)
TA=0.000816/216 (TOPMED)
TA=0.001916/77 (GnomAD)
HGVS:: NC_000010.11:g.42811051_42811052insAT, NC_000010.10:g.43306499_43306500insAT, NG_046921.1:g.33546_33547insAT

Select item 149089941010.

rs1490899410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:42785500 (GRCh38)
10:43280948 (GRCh37)
Canonical SPDI:: NC_000010.11:42785499:A:T
Gene:: BMS1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.42785500A>T, NC_000010.10:g.43280948A>T, NG_046921.1:g.7995A>T, NM_014753.4:c.195A>T, NM_014753.3:c.195A>T, XM_005271846.4:c.195A>T, XM_005271846.3:c.195A>T, XM_005271846.2:c.195A>T, XM_005271846.1:c.195A>T, XM_011540402.3:c.195A>T, XM_011540402.2:c.195A>T, XM_011540402.1:c.195A>T, XM_047426040.1:c.195A>T, XM_047426041.1:c.195A>T, XM_047426042.1:c.195A>T, XR_007062019.1:n.432A>T, XM_047426043.1:c.195A>T

Select item 149079858611.

rs1490798586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:42831516 (GRCh38)
10:43326964 (GRCh37)
Canonical SPDI:: NC_000010.11:42831515:G:A
Gene:: BMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.42831516G>A, NC_000010.10:g.43326964G>A, NG_046921.1:g.54011G>A, NM_014753.4:c.*420G>A, NM_014753.3:c.*420G>A, XM_005271846.4:c.*420G>A, XM_011540402.3:c.*420G>A, XM_047426040.1:c.*420G>A

Select item 149076636912.

rs1490766369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:42816711 (GRCh38)
10:43312159 (GRCh37)
Canonical SPDI:: NC_000010.11:42816710:G:A
Gene:: BMS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.42816711G>A, NC_000010.10:g.43312159G>A, NG_046921.1:g.39206G>A

Select item 149074188613.

rs1490741886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:42829180 (GRCh38)
10:43324628 (GRCh37)
Canonical SPDI:: NC_000010.11:42829179:C:T
Gene:: BMS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000546/1 (Korea1K)
T=0.000684/2 (KOREAN)
HGVS:: NC_000010.11:g.42829180C>T, NC_000010.10:g.43324628C>T, NG_046921.1:g.51675C>T

Select item 149069799614.

rs1490697996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:42794781 (GRCh38)
10:43290229 (GRCh37)
Canonical SPDI:: NC_000010.11:42794780:A:C
Gene:: BMS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.42794781A>C, NC_000010.10:g.43290229A>C, NG_046921.1:g.17276A>C

Select item 149066655515.

rs1490666555 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:42833612 (GRCh38)
10:43329060 (GRCh37)
Canonical SPDI:: NC_000010.11:42833611:A:G
Gene:: BMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.42833612A>G, NC_000010.10:g.43329060A>G, NG_046921.1:g.56107A>G, NM_014753.4:c.*2516A>G, NM_014753.3:c.*2516A>G, XM_005271846.4:c.*2516A>G, XM_011540402.3:c.*2516A>G, XM_047426040.1:c.*2516A>G

Select item 149065459916.

rs1490654599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:42802170 (GRCh38)
10:43297618 (GRCh37)
Canonical SPDI:: NC_000010.11:42802169:G:A
Gene:: BMS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.42802170G>A, NC_000010.10:g.43297618G>A, NG_046921.1:g.24665G>A, NM_014753.4:c.2281G>A, NM_014753.3:c.2281G>A, XM_005271846.4:c.2281G>A, XM_005271846.3:c.2281G>A, XM_005271846.2:c.2281G>A, XM_005271846.1:c.2281G>A, XM_011540402.3:c.2281G>A, XM_011540402.2:c.2281G>A, XM_011540402.1:c.2281G>A, XM_047426040.1:c.2281G>A, XM_047426041.1:c.2281G>A, XM_047426042.1:c.2281G>A, XR_007062019.1:n.2518G>A, XM_047426043.1:c.2281G>A, NP_055568.3:p.Gly761Arg, XP_005271903.1:p.Gly761Arg, XP_011538704.1:p.Gly761Arg, XP_047281996.1:p.Gly761Arg, XP_047281997.1:p.Gly761Arg, XP_047281998.1:p.Gly761Arg, XP_047281999.1:p.Gly761Arg

Select item 149064573217.

rs1490645732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:42831073 (GRCh38)
10:43326521 (GRCh37)
Canonical SPDI:: NC_000010.11:42831072:G:A
Gene:: BMS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.42831073G>A, NC_000010.10:g.43326521G>A, NG_046921.1:g.53568G>A, NM_014753.4:c.3826G>A, NM_014753.3:c.3826G>A, XM_005271846.4:c.3826G>A, XM_005271846.3:c.3826G>A, XM_005271846.2:c.3826G>A, XM_005271846.1:c.3826G>A, XM_011540402.3:c.3826G>A, XM_011540402.2:c.3826G>A, XM_011540402.1:c.3826G>A, XM_047426040.1:c.3637G>A, NP_055568.3:p.Gly1276Arg, XP_005271903.1:p.Gly1276Arg, XP_011538704.1:p.Gly1276Arg, XP_047281996.1:p.Gly1213Arg

Select item 149063400918.

rs1490634009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:42832431 (GRCh38)
10:43327879 (GRCh37)
Canonical SPDI:: NC_000010.11:42832430:A:G
Gene:: BMS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.42832431A>G, NC_000010.10:g.43327879A>G, NG_046921.1:g.54926A>G, NM_014753.4:c.*1335A>G, NM_014753.3:c.*1335A>G, NG_043331.1:g.220T>C, XM_005271846.4:c.*1335A>G, XM_011540402.3:c.*1335A>G, XM_047426040.1:c.*1335A>G

Select item 149056032719.

rs1490560327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:42798252 (GRCh38)
10:43293700 (GRCh37)
Canonical SPDI:: NC_000010.11:42798251:C:A
Gene:: BMS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.42798252C>A, NC_000010.10:g.43293700C>A, NG_046921.1:g.20747C>A

Select item 149055412220.

rs1490554122 [Homo sapiens]

Variant type:: DEL
Alleles:: AGAGA>- [Show Flanks]
Chromosome:: 10:42795504 (GRCh38)
10:43290952 (GRCh37)
Canonical SPDI:: NC_000010.11:42795503:AGAGA:
Gene:: BMS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.006/27 (ALFA)
HGVS:: NC_000010.11:g.42795504_42795508del, NC_000010.10:g.43290952_43290956del, NG_046921.1:g.17999_18003del

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