SNP Links for Gene (Select 669) - SNP

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Select item 14914643031.

rs1491464303 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC,CCC [Show Flanks]
Chromosome:: 7:134648071 (GRCh38)
7:134332824 (GRCh37)
Canonical SPDI:: NC_000007.14:134648071::CC,NC_000007.14:134648071::CCC
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.134648071_134648072insCC, NC_000007.14:g.134648071_134648072insCCC, NC_000007.13:g.134332823_134332824insCC, NC_000007.13:g.134332823_134332824insCCC, NG_012921.1:g.6293_6294insCC, NG_012921.1:g.6293_6294insCCC

Select item 14914413902.

rs1491441390 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CCAC
Chromosome:: no mapping
Canonical SPDI:

Select item 14914286993.

rs1491428699 has merged into rs1164169964 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAATAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:134665663 (GRCh38)
7:134350415 (GRCh37)
Canonical SPDI:: NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:134665649:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.134665663_134665673del, NC_000007.14:g.134665664_134665673del, NC_000007.14:g.134665665_134665673del, NC_000007.14:g.134665666_134665673del, NC_000007.14:g.134665667_134665673del, NC_000007.14:g.134665668_134665673del, NC_000007.14:g.134665669_134665673del, NC_000007.14:g.134665670_134665673del, NC_000007.14:g.134665671_134665673del, NC_000007.14:g.134665672_134665673del, NC_000007.14:g.134665673del, NC_000007.14:g.134665673dup, NC_000007.14:g.134665672_134665673dup, NC_000007.14:g.134665671_134665673dup, NC_000007.14:g.134665670_134665673dup, NC_000007.14:g.134665669_134665673dup, NC_000007.14:g.134665668_134665673dup, NC_000007.14:g.134665667_134665673dup, NC_000007.14:g.134665666_134665673dup, NC_000007.14:g.134665665_134665673dup, NC_000007.14:g.134665664_134665673dup, NC_000007.14:g.134665662_134665673dup, NC_000007.14:g.134665661_134665673dup, NC_000007.14:g.134665660_134665673dup, NC_000007.14:g.134665659_134665673dup, NC_000007.14:g.134665658_134665673dup, NC_000007.14:g.134665656_134665673dup, NC_000007.14:g.134665655_134665673dup, NC_000007.14:g.134665653_134665673dup, NC_000007.14:g.134665673_134665674insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.134665673_134665674insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.134665673_134665674insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.134665673_134665674insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.134665673_134665674insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.134665673_134665674insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.134665673_134665674insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.134665650_134665673A[37]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.134665650_134665673A[37]TAAA[2]A[22], NC_000007.14:g.134665650_134665673A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.134665650_134665673A[35]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.134665650_134665673A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.134665650_134665673A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.134665650_134665673A[25]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.134665650_134665673A[25]TAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.134665650_134665673A[24]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350415_134350425del, NC_000007.13:g.134350416_134350425del, NC_000007.13:g.134350417_134350425del, NC_000007.13:g.134350418_134350425del, NC_000007.13:g.134350419_134350425del, NC_000007.13:g.134350420_134350425del, NC_000007.13:g.134350421_134350425del, NC_000007.13:g.134350422_134350425del, NC_000007.13:g.134350423_134350425del, NC_000007.13:g.134350424_134350425del, NC_000007.13:g.134350425del, NC_000007.13:g.134350425dup, NC_000007.13:g.134350424_134350425dup, NC_000007.13:g.134350423_134350425dup, NC_000007.13:g.134350422_134350425dup, NC_000007.13:g.134350421_134350425dup, NC_000007.13:g.134350420_134350425dup, NC_000007.13:g.134350419_134350425dup, NC_000007.13:g.134350418_134350425dup, NC_000007.13:g.134350417_134350425dup, NC_000007.13:g.134350416_134350425dup, NC_000007.13:g.134350414_134350425dup, NC_000007.13:g.134350413_134350425dup, NC_000007.13:g.134350412_134350425dup, NC_000007.13:g.134350411_134350425dup, NC_000007.13:g.134350410_134350425dup, NC_000007.13:g.134350408_134350425dup, NC_000007.13:g.134350407_134350425dup, NC_000007.13:g.134350405_134350425dup, NC_000007.13:g.134350425_134350426insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.134350425_134350426insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.134350425_134350426insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.134350425_134350426insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.134350425_134350426insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.134350425_134350426insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.134350425_134350426insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.134350402_134350425A[37]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350402_134350425A[37]TAAA[2]A[22], NC_000007.13:g.134350402_134350425A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350402_134350425A[35]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350402_134350425A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350402_134350425A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350402_134350425A[25]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350402_134350425A[25]TAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.134350402_134350425A[24]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23885_23895del, NG_012921.1:g.23886_23895del, NG_012921.1:g.23887_23895del, NG_012921.1:g.23888_23895del, NG_012921.1:g.23889_23895del, NG_012921.1:g.23890_23895del, NG_012921.1:g.23891_23895del, NG_012921.1:g.23892_23895del, NG_012921.1:g.23893_23895del, NG_012921.1:g.23894_23895del, NG_012921.1:g.23895del, NG_012921.1:g.23895dup, NG_012921.1:g.23894_23895dup, NG_012921.1:g.23893_23895dup, NG_012921.1:g.23892_23895dup, NG_012921.1:g.23891_23895dup, NG_012921.1:g.23890_23895dup, NG_012921.1:g.23889_23895dup, NG_012921.1:g.23888_23895dup, NG_012921.1:g.23887_23895dup, NG_012921.1:g.23886_23895dup, NG_012921.1:g.23884_23895dup, NG_012921.1:g.23883_23895dup, NG_012921.1:g.23882_23895dup, NG_012921.1:g.23881_23895dup, NG_012921.1:g.23880_23895dup, NG_012921.1:g.23878_23895dup, NG_012921.1:g.23877_23895dup, NG_012921.1:g.23875_23895dup, NG_012921.1:g.23895_23896insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012921.1:g.23895_23896insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012921.1:g.23895_23896insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012921.1:g.23895_23896insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012921.1:g.23895_23896insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012921.1:g.23895_23896insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012921.1:g.23895_23896insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012921.1:g.23872_23895A[37]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23872_23895A[37]TAAA[2]A[22], NG_012921.1:g.23872_23895A[35]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23872_23895A[35]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23872_23895A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23872_23895A[32]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23872_23895A[25]TAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23872_23895A[25]TAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_012921.1:g.23872_23895A[24]TAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913406044.

rs1491340604 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:134665644 (GRCh38)
7:134350396 (GRCh37)
Canonical SPDI:: NC_000007.14:134665643:TT:
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00005/1 (GnomAD)
HGVS:: NC_000007.14:g.134665644_134665645del, NC_000007.13:g.134350396_134350397del, NG_012921.1:g.23866_23867del

Select item 14913300735.

rs1491330073 has merged into rs5887693 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACAC>-,AC,ACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACACAC [Show Flanks]
Chromosome:: 7:134654140 (GRCh38)
7:134338892 (GRCh37)
Canonical SPDI:: NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACAC,NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACACAC,NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACACACAC,NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACACACACACAC,NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACACACACACACAC,NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000007.14:134654127:ACACACACACACACACAC:ACACACACACACACACACACACACACACAC
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0./0 (ALFA)
-=0.3624/1815 (1000Genomes)
HGVS:: NC_000007.14:g.134654128AC[6], NC_000007.14:g.134654128AC[7], NC_000007.14:g.134654128AC[8], NC_000007.14:g.134654128AC[10], NC_000007.14:g.134654128AC[11], NC_000007.14:g.134654128AC[12], NC_000007.14:g.134654128AC[13], NC_000007.14:g.134654128AC[15], NC_000007.13:g.134338880AC[6], NC_000007.13:g.134338880AC[7], NC_000007.13:g.134338880AC[8], NC_000007.13:g.134338880AC[10], NC_000007.13:g.134338880AC[11], NC_000007.13:g.134338880AC[12], NC_000007.13:g.134338880AC[13], NC_000007.13:g.134338880AC[15], NG_012921.1:g.12350AC[6], NG_012921.1:g.12350AC[7], NG_012921.1:g.12350AC[8], NG_012921.1:g.12350AC[10], NG_012921.1:g.12350AC[11], NG_012921.1:g.12350AC[12], NG_012921.1:g.12350AC[13], NG_012921.1:g.12350AC[15]

Select item 14912570916.

rs1491257091 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 7:134648131 (GRCh38)
7:134332883 (GRCh37)
Canonical SPDI:: NC_000007.14:134648130:GG:
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00403/336 (GnomAD)
-=0.01166/179 (TOMMO)
-=0.01676/29 (Korea1K)
HGVS:: NC_000007.14:g.134648131_134648132del, NC_000007.13:g.134332883_134332884del, NG_012921.1:g.6353_6354del

Select item 14912525077.

rs1491252507 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:134648132 (GRCh38)
7:134332884 (GRCh37)
Canonical SPDI:: NC_000007.14:134648131:GT:
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00118/20 (TOMMO)
-=0.003515/471 (GnomAD)
HGVS:: NC_000007.14:g.134648132_134648133del, NC_000007.13:g.134332884_134332885del, NG_012921.1:g.6354_6355del

Select item 14912080608.

rs1491208060 has merged into rs66893203 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:134659387 (GRCh38)
7:134344139 (GRCh37)
Canonical SPDI:: NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:134659372:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1463/564 (ALSPAC)
HGVS:: NC_000007.14:g.134659373GT[7], NC_000007.14:g.134659373GT[8], NC_000007.14:g.134659373GT[9], NC_000007.14:g.134659373GT[10], NC_000007.14:g.134659373GT[11], NC_000007.14:g.134659373GT[12], NC_000007.14:g.134659373GT[13], NC_000007.14:g.134659373GT[14], NC_000007.14:g.134659373GT[15], NC_000007.14:g.134659373GT[16], NC_000007.14:g.134659373GT[17], NC_000007.14:g.134659373GT[18], NC_000007.14:g.134659373GT[19], NC_000007.14:g.134659373GT[21], NC_000007.14:g.134659373GT[22], NC_000007.14:g.134659373GT[23], NC_000007.14:g.134659373GT[24], NC_000007.14:g.134659373GT[25], NC_000007.14:g.134659373GT[26], NC_000007.14:g.134659373GT[27], NC_000007.13:g.134344125GT[7], NC_000007.13:g.134344125GT[8], NC_000007.13:g.134344125GT[9], NC_000007.13:g.134344125GT[10], NC_000007.13:g.134344125GT[11], NC_000007.13:g.134344125GT[12], NC_000007.13:g.134344125GT[13], NC_000007.13:g.134344125GT[14], NC_000007.13:g.134344125GT[15], NC_000007.13:g.134344125GT[16], NC_000007.13:g.134344125GT[17], NC_000007.13:g.134344125GT[18], NC_000007.13:g.134344125GT[19], NC_000007.13:g.134344125GT[21], NC_000007.13:g.134344125GT[22], NC_000007.13:g.134344125GT[23], NC_000007.13:g.134344125GT[24], NC_000007.13:g.134344125GT[25], NC_000007.13:g.134344125GT[26], NC_000007.13:g.134344125GT[27], NG_012921.1:g.17595GT[7], NG_012921.1:g.17595GT[8], NG_012921.1:g.17595GT[9], NG_012921.1:g.17595GT[10], NG_012921.1:g.17595GT[11], NG_012921.1:g.17595GT[12], NG_012921.1:g.17595GT[13], NG_012921.1:g.17595GT[14], NG_012921.1:g.17595GT[15], NG_012921.1:g.17595GT[16], NG_012921.1:g.17595GT[17], NG_012921.1:g.17595GT[18], NG_012921.1:g.17595GT[19], NG_012921.1:g.17595GT[21], NG_012921.1:g.17595GT[22], NG_012921.1:g.17595GT[23], NG_012921.1:g.17595GT[24], NG_012921.1:g.17595GT[25], NG_012921.1:g.17595GT[26], NG_012921.1:g.17595GT[27]

Select item 14912016409.

rs1491201640 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA [Show Flanks]
Chromosome:: 7:134665644 (GRCh38)
7:134350397 (GRCh37)
Canonical SPDI:: NC_000007.14:134665644::A,NC_000007.14:134665644::AAA
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AAA=0.0011/2 (GnomAD)
HGVS:: NC_000007.14:g.134665644_134665645insA, NC_000007.14:g.134665644_134665645insAAA, NC_000007.13:g.134350396_134350397insA, NC_000007.13:g.134350396_134350397insAAA, NG_012921.1:g.23866_23867insA, NG_012921.1:g.23866_23867insAAA

Select item 149118374110.

rs1491183741 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 7:134663386 (GRCh38)
7:134348138 (GRCh37)
Canonical SPDI:: NC_000007.14:134663384:TTT:T,NC_000007.14:134663384:TTT:TTTTT
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.134663386_134663387del, NC_000007.14:g.134663386_134663387dup, NC_000007.13:g.134348138_134348139del, NC_000007.13:g.134348138_134348139dup, NG_012921.1:g.21608_21609del, NG_012921.1:g.21608_21609dup

Select item 149116977811.

rs1491169778 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 7:134659372 (GRCh38)
7:134344124 (GRCh37)
Canonical SPDI:: NC_000007.14:134659371:CG:
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000035/4 (GnomAD)
HGVS:: NC_000007.14:g.134659372_134659373del, NC_000007.13:g.134344124_134344125del, NG_012921.1:g.17594_17595del

Select item 149114846812.

rs1491148468 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAAAAAAAAAAAAAAAAAAAG [Show Flanks]
Chromosome:: 7:134665650 (GRCh38)
7:134350403 (GRCh37)
Canonical SPDI:: NC_000007.14:134665650:AAAAAAAAAAAAAAAAAAAAAAAG:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAG
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAAAG=0.0019/4 (TOMMO)
HGVS:: NC_000007.14:g.134665651_134665674dup, NC_000007.13:g.134350403_134350426dup, NG_012921.1:g.23873_23896dup

Select item 149073280813.

rs1490732808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:134666636 (GRCh38)
7:134351388 (GRCh37)
Canonical SPDI:: NC_000007.14:134666635:A:G
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.134666636A>G, NC_000007.13:g.134351388A>G, NG_012921.1:g.24858A>G

Select item 149056953314.

rs1490569533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:134667876 (GRCh38)
7:134352628 (GRCh37)
Canonical SPDI:: NC_000007.14:134667875:C:A
Gene:: BPGM (Varview), LOC124901750 (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_000007.14:g.134667876C>A, NC_000007.13:g.134352628C>A, NG_012921.1:g.26098C>A

Select item 149047098615.

rs1490470986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:134647273 (GRCh38)
7:134332025 (GRCh37)
Canonical SPDI:: NC_000007.14:134647272:G:C
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.134647273G>C, NC_000007.13:g.134332025G>C, NG_012921.1:g.5495G>C

Select item 149041275816.

rs1490412758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:134647136 (GRCh38)
7:134331888 (GRCh37)
Canonical SPDI:: NC_000007.14:134647135:A:G,NC_000007.14:134647135:A:T
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134647136A>G, NC_000007.14:g.134647136A>T, NC_000007.13:g.134331888A>G, NC_000007.13:g.134331888A>T, NG_012921.1:g.5358A>G, NG_012921.1:g.5358A>T, NM_001293085.2:c.-185A>G, NM_001293085.2:c.-185A>T, NM_001293085.1:c.-185A>G, NM_001293085.1:c.-185A>T, XM_047420761.1:c.-506A>G, XM_047420761.1:c.-506A>T

Select item 149038744717.

rs1490387447 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:134664140 (GRCh38)
7:134348893 (GRCh37)
Canonical SPDI:: NC_000007.14:134664140::G
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134664140_134664141insG, NC_000007.13:g.134348892_134348893insG, NG_012921.1:g.22362_22363insG

Select item 149030867218.

rs1490308672 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:134647789 (GRCh38)
7:134332541 (GRCh37)
Canonical SPDI:: NC_000007.14:134647787:TGT:T
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.134647789_134647790del, NC_000007.13:g.134332541_134332542del, NG_012921.1:g.6011_6012del

Select item 149022592719.

rs1490225927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:134650547 (GRCh38)
7:134335299 (GRCh37)
Canonical SPDI:: NC_000007.14:134650546:A:C,NC_000007.14:134650546:A:G
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.134650547A>C, NC_000007.14:g.134650547A>G, NC_000007.13:g.134335299A>C, NC_000007.13:g.134335299A>G, NG_012921.1:g.8769A>C, NG_012921.1:g.8769A>G, NG_078422.1:g.451A>C, NG_078422.1:g.451A>G

Select item 149018575220.

rs1490185752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:134655999 (GRCh38)
7:134340751 (GRCh37)
Canonical SPDI:: NC_000007.14:134655998:C:A
Gene:: BPGM (Varview), LOC124901750 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000007.14:g.134655999C>A, NC_000007.13:g.134340751C>A, NG_012921.1:g.14221C>A

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