SNP Links for Gene (Select 2636) - SNP

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Select item 14915379931.

rs1491537993 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 7:151164776 (GRCh38)
7:150861863 (GRCh37)
Canonical SPDI:: NC_000007.14:151164773:CTCT:CT
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
HGVS:: NC_000007.14:g.151164774CT[1], NC_000007.13:g.150861861CT[1]

Select item 14915026702.

rs1491502670 has merged into rs376110409 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 7:151166484 (GRCh38)
7:150863571 (GRCh37)
Canonical SPDI:: NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCC=0./0 (ALFA)
-=0.17372/870 (1000Genomes)
HGVS:: NC_000007.14:g.151166484_151166486del, NC_000007.14:g.151166485_151166486del, NC_000007.14:g.151166486del, NC_000007.14:g.151166486dup, NC_000007.14:g.151166485_151166486dup, NC_000007.14:g.151166484_151166486dup, NC_000007.14:g.151166483_151166486dup, NC_000007.14:g.151166482_151166486dup, NC_000007.14:g.151166481_151166486dup, NC_000007.14:g.151166486_151166487insCCCCCCCCCCCCCCCCC, NC_000007.13:g.150863571_150863573del, NC_000007.13:g.150863572_150863573del, NC_000007.13:g.150863573del, NC_000007.13:g.150863573dup, NC_000007.13:g.150863572_150863573dup, NC_000007.13:g.150863571_150863573dup, NC_000007.13:g.150863570_150863573dup, NC_000007.13:g.150863569_150863573dup, NC_000007.13:g.150863568_150863573dup, NC_000007.13:g.150863573_150863574insCCCCCCCCCCCCCCCCC

Select item 14914627973.

rs1491462797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTTT [Show Flanks]
Chromosome:: 7:151164774 (GRCh38)
7:150861862 (GRCh37)
Canonical SPDI:: NC_000007.14:151164774:T:TT,NC_000007.14:151164774:T:TTT,NC_000007.14:151164774:T:TTTTT
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
TT=0.00021/6 (TOMMO)
HGVS:: NC_000007.14:g.151164775dup, NC_000007.14:g.151164775_151164776insTT, NC_000007.14:g.151164775_151164776insTTTT, NC_000007.13:g.150861862dup, NC_000007.13:g.150861862_150861863insTT, NC_000007.13:g.150861862_150861863insTTTT

Select item 14914418404.

rs1491441840 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:151166475 (GRCh38)
7:150863563 (GRCh37)
Canonical SPDI:: NC_000007.14:151166475::T
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.151166475_151166476insT, NC_000007.13:g.150863562_150863563insT

Select item 14914023715.

rs1491402371 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:151159085 (GRCh38)
7:150856172 (GRCh37)
Canonical SPDI:: NC_000007.14:151159084:AT:
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000007.14:g.151159085_151159086del, NC_000007.13:g.150856172_150856173del

Select item 14913767066.

rs1491376706 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 7:151166487 (GRCh38)
7:150863574 (GRCh37)
Canonical SPDI:: NC_000007.14:151166486:AA:
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0005/8 (ALFA)
-=0.00113/2 (Korea1K)
-=0.00187/175 (GnomAD)
-=0.00396/64 (TOMMO)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000007.14:g.151166487_151166488del, NC_000007.13:g.150863574_150863575del

Select item 14913657137.

rs1491365713 has merged into rs376110409 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 7:151166484 (GRCh38)
7:150863571 (GRCh37)
Canonical SPDI:: NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000007.14:151166474:CCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCC=0./0 (ALFA)
-=0.17372/870 (1000Genomes)
HGVS:: NC_000007.14:g.151166484_151166486del, NC_000007.14:g.151166485_151166486del, NC_000007.14:g.151166486del, NC_000007.14:g.151166486dup, NC_000007.14:g.151166485_151166486dup, NC_000007.14:g.151166484_151166486dup, NC_000007.14:g.151166483_151166486dup, NC_000007.14:g.151166482_151166486dup, NC_000007.14:g.151166481_151166486dup, NC_000007.14:g.151166486_151166487insCCCCCCCCCCCCCCCCC, NC_000007.13:g.150863571_150863573del, NC_000007.13:g.150863572_150863573del, NC_000007.13:g.150863573del, NC_000007.13:g.150863573dup, NC_000007.13:g.150863572_150863573dup, NC_000007.13:g.150863571_150863573dup, NC_000007.13:g.150863570_150863573dup, NC_000007.13:g.150863569_150863573dup, NC_000007.13:g.150863568_150863573dup, NC_000007.13:g.150863573_150863574insCCCCCCCCCCCCCCCCC

Select item 14913253618.

rs1491325361 has merged into rs34407378 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:151159099 (GRCh38)
7:150856186 (GRCh37)
Canonical SPDI:: NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:151159085:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0519/200 (ALSPAC)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000007.14:g.151159099_151159102del, NC_000007.14:g.151159100_151159102del, NC_000007.14:g.151159101_151159102del, NC_000007.14:g.151159102del, NC_000007.14:g.151159102dup, NC_000007.14:g.151159101_151159102dup, NC_000007.14:g.151159100_151159102dup, NC_000007.14:g.151159094_151159102dup, NC_000007.13:g.150856186_150856189del, NC_000007.13:g.150856187_150856189del, NC_000007.13:g.150856188_150856189del, NC_000007.13:g.150856189del, NC_000007.13:g.150856189dup, NC_000007.13:g.150856188_150856189dup, NC_000007.13:g.150856187_150856189dup, NC_000007.13:g.150856181_150856189dup

Select item 14912062359.

rs1491206235 has merged into rs111815011 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:151162816 (GRCh38)
7:150859903 (GRCh37)
Canonical SPDI:: NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151162804:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1508/581 (ALSPAC)
-=0.4519/2263 (1000Genomes)
HGVS:: NC_000007.14:g.151162816_151162822del, NC_000007.14:g.151162818_151162822del, NC_000007.14:g.151162819_151162822del, NC_000007.14:g.151162820_151162822del, NC_000007.14:g.151162821_151162822del, NC_000007.14:g.151162822del, NC_000007.14:g.151162822dup, NC_000007.14:g.151162821_151162822dup, NC_000007.14:g.151162820_151162822dup, NC_000007.14:g.151162819_151162822dup, NC_000007.14:g.151162817_151162822dup, NC_000007.14:g.151162816_151162822dup, NC_000007.14:g.151162815_151162822dup, NC_000007.14:g.151162822_151162823insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150859903_150859909del, NC_000007.13:g.150859905_150859909del, NC_000007.13:g.150859906_150859909del, NC_000007.13:g.150859907_150859909del, NC_000007.13:g.150859908_150859909del, NC_000007.13:g.150859909del, NC_000007.13:g.150859909dup, NC_000007.13:g.150859908_150859909dup, NC_000007.13:g.150859907_150859909dup, NC_000007.13:g.150859906_150859909dup, NC_000007.13:g.150859904_150859909dup, NC_000007.13:g.150859903_150859909dup, NC_000007.13:g.150859902_150859909dup, NC_000007.13:g.150859909_150859910insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149116312710.

rs1491163127 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:151166474 (GRCh38)
7:150863561 (GRCh37)
Canonical SPDI:: NC_000007.14:151166473:AC:
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.151166474_151166475del, NC_000007.13:g.150863561_150863562del

Select item 149115435111.

rs1491154351 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC,CCC,CCCC,CCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC [Show Flanks]
Chromosome:: 7:151166488 (GRCh38)
7:150863576 (GRCh37)
Canonical SPDI:: NC_000007.14:151166488:C:CCC,NC_000007.14:151166488:C:CCCC,NC_000007.14:151166488:C:CCCCC,NC_000007.14:151166488:C:CCCCCC,NC_000007.14:151166488:C:CCCCCCCC,NC_000007.14:151166488:C:CCCCCCCCC,NC_000007.14:151166488:C:CCCCCCCCCCC,NC_000007.14:151166488:C:CCCCCCCCCCCC
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000007.14:g.151166489_151166490insCC, NC_000007.14:g.151166489_151166490insCCC, NC_000007.14:g.151166489_151166490insCCCC, NC_000007.14:g.151166489_151166490insCCCCC, NC_000007.14:g.151166489_151166490insCCCCCCC, NC_000007.14:g.151166489_151166490insCCCCCCCC, NC_000007.14:g.151166489_151166490insCCCCCCCCCC, NC_000007.14:g.151166489_151166490insCCCCCCCCCCC, NC_000007.13:g.150863576_150863577insCC, NC_000007.13:g.150863576_150863577insCCC, NC_000007.13:g.150863576_150863577insCCCC, NC_000007.13:g.150863576_150863577insCCCCC, NC_000007.13:g.150863576_150863577insCCCCCCC, NC_000007.13:g.150863576_150863577insCCCCCCCC, NC_000007.13:g.150863576_150863577insCCCCCCCCCC, NC_000007.13:g.150863576_150863577insCCCCCCCCCCC

Select item 149107222912.

rs1491072229 has merged into rs71533521 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:151164787 (GRCh38)
7:150861874 (GRCh37)
Canonical SPDI:: NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:151164776:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.151164787_151164796del, NC_000007.14:g.151164788_151164796del, NC_000007.14:g.151164789_151164796del, NC_000007.14:g.151164790_151164796del, NC_000007.14:g.151164791_151164796del, NC_000007.14:g.151164792_151164796del, NC_000007.14:g.151164793_151164796del, NC_000007.14:g.151164794_151164796del, NC_000007.14:g.151164795_151164796del, NC_000007.14:g.151164796del, NC_000007.14:g.151164796dup, NC_000007.14:g.151164795_151164796dup, NC_000007.14:g.151164794_151164796dup, NC_000007.14:g.151164793_151164796dup, NC_000007.14:g.151164792_151164796dup, NC_000007.14:g.151164791_151164796dup, NC_000007.14:g.151164790_151164796dup, NC_000007.14:g.151164789_151164796dup, NC_000007.14:g.151164788_151164796dup, NC_000007.14:g.151164787_151164796dup, NC_000007.14:g.151164786_151164796dup, NC_000007.14:g.151164785_151164796dup, NC_000007.14:g.151164784_151164796dup, NC_000007.14:g.151164783_151164796dup, NC_000007.14:g.151164782_151164796dup, NC_000007.14:g.151164778_151164796dup, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.151164796_151164797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861874_150861883del, NC_000007.13:g.150861875_150861883del, NC_000007.13:g.150861876_150861883del, NC_000007.13:g.150861877_150861883del, NC_000007.13:g.150861878_150861883del, NC_000007.13:g.150861879_150861883del, NC_000007.13:g.150861880_150861883del, NC_000007.13:g.150861881_150861883del, NC_000007.13:g.150861882_150861883del, NC_000007.13:g.150861883del, NC_000007.13:g.150861883dup, NC_000007.13:g.150861882_150861883dup, NC_000007.13:g.150861881_150861883dup, NC_000007.13:g.150861880_150861883dup, NC_000007.13:g.150861879_150861883dup, NC_000007.13:g.150861878_150861883dup, NC_000007.13:g.150861877_150861883dup, NC_000007.13:g.150861876_150861883dup, NC_000007.13:g.150861875_150861883dup, NC_000007.13:g.150861874_150861883dup, NC_000007.13:g.150861873_150861883dup, NC_000007.13:g.150861872_150861883dup, NC_000007.13:g.150861871_150861883dup, NC_000007.13:g.150861870_150861883dup, NC_000007.13:g.150861869_150861883dup, NC_000007.13:g.150861865_150861883dup, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.150861883_150861884insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149097219813.

rs1490972198 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 7:151147750 (GRCh38)
7:150844837 (GRCh37)
Canonical SPDI:: NC_000007.14:151147749:TT:T
Gene:: GBX1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151147751del, NC_000007.13:g.150844838del

Select item 149095926714.

rs1490959267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151163656 (GRCh38)
7:150860743 (GRCh37)
Canonical SPDI:: NC_000007.14:151163655:T:C
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151163656T>C, NC_000007.13:g.150860743T>C

Select item 149093357215.

rs1490933572 [Homo sapiens]

Variant type:: DEL
Alleles:: TTG>- [Show Flanks]
Chromosome:: 7:151164795 (GRCh38)
7:150861882 (GRCh37)
Canonical SPDI:: NC_000007.14:151164794:TTG:
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.151164795_151164797del, NC_000007.13:g.150861882_150861884del

Select item 149080303516.

rs1490803035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151169501 (GRCh38)
7:150866588 (GRCh37)
Canonical SPDI:: NC_000007.14:151169500:T:C
Gene:: GBX1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000177/3 (TOMMO)
C=0.001711/5 (KOREAN)
HGVS:: NC_000007.14:g.151169501T>C, NC_000007.13:g.150866588T>C

Select item 149058572117.

rs1490585721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151155490 (GRCh38)
7:150852577 (GRCh37)
Canonical SPDI:: NC_000007.14:151155489:G:A
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151155490G>A, NC_000007.13:g.150852577G>A

Select item 149046898618.

rs1490468986 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 7:151164158 (GRCh38)
7:150861245 (GRCh37)
Canonical SPDI:: NC_000007.14:151164157:G:
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151164158del, NC_000007.13:g.150861245del

Select item 148999775019.

rs1489997750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151154051 (GRCh38)
7:150851138 (GRCh37)
Canonical SPDI:: NC_000007.14:151154050:A:G
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151154051A>G, NC_000007.13:g.150851138A>G

Select item 148995207920.

rs1489952079 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 7:151151263 (GRCh38)
7:150848350 (GRCh37)
Canonical SPDI:: NC_000007.14:151151257:TTCTTCTT:TTCTT
Gene:: GBX1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.151151260CTT[1], NC_000007.13:g.150848347CTT[1]

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