SNP Links for Gene (Select 57597) - SNP

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Select item 14915736431.

rs1491573643 has merged into rs146560663 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG,CGCGCG [Show Flanks]
Chromosome:: 17:81399154 (GRCh38)
17:79372954 (GRCh37)
Canonical SPDI:: NC_000017.11:81399152:GCG:G,NC_000017.11:81399152:GCG:GCGCG,NC_000017.11:81399152:GCG:GCGCGCG
Gene:: BAHCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCG=0./0 (ALFA)
GC=0.00086/14 (TOMMO)
GC=0.0011/2 (Korea1K)
GC=0.17251/11362 (GnomAD_exomes)
GC=0.25833/155 (NorthernSweden)
GC=0.26074/2925 (ExAC)
HGVS:: NC_000017.11:g.81399154_81399155del, NC_000017.11:g.81399154_81399155dup, NC_000017.11:g.81399154CG[3], NC_000017.10:g.79372954_79372955del, NC_000017.10:g.79372954_79372955dup, NC_000017.10:g.79372954CG[3], NW_025791805.1:g.53792_53793del, NW_025791805.1:g.53792_53793dup, NW_025791805.1:g.53792CG[3], NW_003871087.1:g.53792_53793del, NW_003871087.1:g.53792_53793dup, NW_003871087.1:g.53792CG[3]

Select item 14915673012.

rs1491567301 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CGCA,CGCGCA,CGTGCA [Show Flanks]
Chromosome:: 17:81418797 (GRCh38)
17:79392598 (GRCh37)
Canonical SPDI:: NC_000017.11:81418797::CA,NC_000017.11:81418797::CGCA,NC_000017.11:81418797::CGCGCA,NC_000017.11:81418797::CGTGCA
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCA=0./0 (ALFA)
CGCA=0.00018/2 (TOMMO)
HGVS:: NC_000017.11:g.81418797_81418798insCA, NC_000017.11:g.81418797_81418798insCGCA, NC_000017.11:g.81418797_81418798insCGCGCA, NC_000017.11:g.81418797_81418798insCGTGCA, NC_000017.10:g.79392597_79392598insCA, NC_000017.10:g.79392597_79392598insCGCA, NC_000017.10:g.79392597_79392598insCGCGCA, NC_000017.10:g.79392597_79392598insCGTGCA, NW_025791805.1:g.73438_73439insCA, NW_025791805.1:g.73438_73439insCGCA, NW_025791805.1:g.73438_73439insCGCGCA, NW_025791805.1:g.73438_73439insCGTGCA

Select item 14915234213.

rs1491523421 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTAC [Show Flanks]
Chromosome:: 17:81418774 (GRCh38)
17:79392575 (GRCh37)
Canonical SPDI:: NC_000017.11:81418774::GTAC
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTAC=0.00126/15 (ALFA)
HGVS:: NC_000017.11:g.81418774_81418775insGTAC, NC_000017.10:g.79392574_79392575insGTAC, NW_025791805.1:g.73415_73416insGTAC, NW_003871087.1:g.73412_73413insGTAC

Select item 14915122344.

rs1491512234 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGA [Show Flanks]
Chromosome:: 17:81396199 (GRCh38)
17:79370000 (GRCh37)
Canonical SPDI:: NC_000017.11:81396199:TGA:TGATGA
Gene:: BAHCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGATGA=0./0 (ALFA)
TGA=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.81396200_81396202dup, NC_000017.10:g.79370000_79370002dup, NW_025791805.1:g.50838_50840dup, NW_003871087.1:g.50838_50840dup

Select item 14915122095.

rs1491512209 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 17:81418776 (GRCh38)
17:79392576 (GRCh37)
Canonical SPDI:: NC_000017.11:81418775:CG:
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81418776_81418777del, NC_000017.10:g.79392576_79392577del, NW_025791805.1:g.73417_73418del, NW_003871087.1:g.73414_73415del

Select item 14914866486.

rs1491486648 has merged into rs11333301 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:81441676 (GRCh38)
17:79408702 (GRCh37)
Canonical SPDI:: NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:81441668:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.81441676_81441690del, NC_000017.11:g.81441679_81441690del, NC_000017.11:g.81441680_81441690del, NC_000017.11:g.81441681_81441690del, NC_000017.11:g.81441682_81441690del, NC_000017.11:g.81441683_81441690del, NC_000017.11:g.81441684_81441690del, NC_000017.11:g.81441685_81441690del, NC_000017.11:g.81441686_81441690del, NC_000017.11:g.81441687_81441690del, NC_000017.11:g.81441688_81441690del, NC_000017.11:g.81441689_81441690del, NC_000017.11:g.81441690del, NC_000017.11:g.81441690dup, NC_000017.11:g.81441689_81441690dup, NC_000017.11:g.81441688_81441690dup, NC_000017.11:g.81441687_81441690dup, NC_000017.11:g.81441685_81441690dup, NC_000017.11:g.81441683_81441690dup, NC_000017.11:g.81441682_81441690dup, NC_000017.10:g.79408702_79408716del, NC_000017.10:g.79408705_79408716del, NC_000017.10:g.79408706_79408716del, NC_000017.10:g.79408707_79408716del, NC_000017.10:g.79408708_79408716del, NC_000017.10:g.79408709_79408716del, NC_000017.10:g.79408710_79408716del, NC_000017.10:g.79408711_79408716del, NC_000017.10:g.79408712_79408716del, NC_000017.10:g.79408713_79408716del, NC_000017.10:g.79408714_79408716del, NC_000017.10:g.79408715_79408716del, NC_000017.10:g.79408716del, NC_000017.10:g.79408716dup, NC_000017.10:g.79408715_79408716dup, NC_000017.10:g.79408714_79408716dup, NC_000017.10:g.79408713_79408716dup, NC_000017.10:g.79408711_79408716dup, NC_000017.10:g.79408709_79408716dup, NC_000017.10:g.79408708_79408716dup, NW_025791805.1:g.97911delinsAAAAA, NW_025791805.1:g.97904_97914del, NW_025791805.1:g.97907_97914del, NW_025791805.1:g.97908_97914del, NW_025791805.1:g.97909_97914del, NW_025791805.1:g.97910_97914del, NW_025791805.1:g.97908AAAG[1], NW_025791805.1:g.97911_97913del, NW_025791805.1:g.97911_97912del, NW_025791805.1:g.97911del, NW_025791805.1:g.97911G>A, NW_025791805.1:g.97911delinsAA, NW_025791805.1:g.97911delinsAAA, NW_025791805.1:g.97911delinsAAAA, NW_025791805.1:g.97911delinsAAAAAA, NW_025791805.1:g.97911delinsAAAAAAA, NW_025791805.1:g.97911delinsAAAAAAAA, NW_025791805.1:g.97911delinsAAAAAAAAA, NW_025791805.1:g.97911delinsAAAAAAAAAAA, NW_025791805.1:g.97911delinsAAAAAAAAAAAAA, NW_025791805.1:g.97911delinsAAAAAAAAAAAAAA, NW_003871087.1:g.96314_96328del, NW_003871087.1:g.96317_96328del, NW_003871087.1:g.96318_96328del, NW_003871087.1:g.96319_96328del, NW_003871087.1:g.96320_96328del, NW_003871087.1:g.96321_96328del, NW_003871087.1:g.96322_96328del, NW_003871087.1:g.96323_96328del, NW_003871087.1:g.96324_96328del, NW_003871087.1:g.96325_96328del, NW_003871087.1:g.96326_96328del, NW_003871087.1:g.96327_96328del, NW_003871087.1:g.96328del, NW_003871087.1:g.96328dup, NW_003871087.1:g.96327_96328dup, NW_003871087.1:g.96326_96328dup, NW_003871087.1:g.96325_96328dup, NW_003871087.1:g.96323_96328dup, NW_003871087.1:g.96321_96328dup, NW_003871087.1:g.96320_96328dup

Select item 14914758917.

rs1491475891 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:81397412 (GRCh38)
17:79371213 (GRCh37)
Canonical SPDI:: NC_000017.11:81397412::G
Gene:: BAHCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,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_000017.11:g.81397412_81397413insG, NC_000017.10:g.79371212_79371213insG, NW_025791805.1:g.52050_52051insG, NW_003871087.1:g.52050_52051insG

Select item 14914314468.

rs1491431446 has merged into rs781802477 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 17:81418785 (GRCh38)
17:79392585 (GRCh37)
Canonical SPDI:: NC_000017.11:81418776:GTGTGTGTGT:GTGTGTGT,NC_000017.11:81418776:GTGTGTGTGT:GTGTGTGTGTGT
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGT=0.00025/4 (ALFA)
-=0.00052/2 (ALSPAC)
-=0.00054/2 (TWINSUK)
-=0.00283/47 (TOMMO)
-=0.00382/7 (Korea1K)
-=0.01/6 (NorthernSweden)
HGVS:: NC_000017.11:g.81418777GT[4], NC_000017.11:g.81418777GT[6], NC_000017.10:g.79392577GT[4], NC_000017.10:g.79392577GT[6], NW_025791805.1:g.73418GT[4], NW_025791805.1:g.73418GT[6], NW_003871087.1:g.73415GT[4], NW_003871087.1:g.73415GT[6]

Select item 14914197169.

rs1491419716 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:81443947 (GRCh38)
17:79410973 (GRCh37)
Canonical SPDI:: NC_000017.11:81443945:GTG:G
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81443947_81443948del, NC_000017.10:g.79410973_79410974del, NW_025791805.1:g.100169_100170del, NW_003871087.1:g.98585_98586del

Select item 149141821410.

rs1491418214 has merged into rs782266436 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:81419789 (GRCh38)
17:79393589 (GRCh37)
Canonical SPDI:: NC_000017.11:81419788:GT:
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00007/2 (TOMMO)
-=0.00046/43 (GnomAD)
HGVS:: NC_000017.11:g.81419789_81419790del, NC_000017.10:g.79393589_79393590del, NW_003871087.1:g.74427_74428del

Select item 149138946811.

rs1491389468 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:81441668 (GRCh38)
17:79408694 (GRCh37)
Canonical SPDI:: NC_000017.11:81441667:CA:
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.81441668_81441669del, NC_000017.10:g.79408694_79408695del, NW_025791805.1:g.97895_97896del, NW_003871087.1:g.96306_96307del

Select item 149138028712.

rs1491380287 has merged into rs1212230338 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 17:81419790 (GRCh38)
17:79393590 (GRCh37)
Canonical SPDI:: NC_000017.11:81419789:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:81419789:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81419789:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:81419789:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.81419810del, NC_000017.11:g.81419810dup, NC_000017.11:g.81419808_81419810dup, NC_000017.11:g.81419807_81419810dup, NC_000017.10:g.79393610del, NC_000017.10:g.79393610dup, NC_000017.10:g.79393608_79393610dup, NC_000017.10:g.79393607_79393610dup, NW_025791805.1:g.74457delinsTT, NW_025791805.1:g.74457C>T, NW_025791805.1:g.74457delinsTTT, NW_025791805.1:g.74457delinsTTTTT, NW_025791805.1:g.74457delinsTTTTTT, NW_003871087.1:g.74448del, NW_003871087.1:g.74448dup, NW_003871087.1:g.74446_74448dup, NW_003871087.1:g.74445_74448dup

Select item 149136551113.

rs1491365511 has merged into rs71166140 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:81418774 (GRCh38)
17:79392574 (GRCh37)
Canonical SPDI:: NC_000017.11:81418773:TA:
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00876/143 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00078/5 (1000Genomes)
-=0.00097/85 (GnomAD)
HGVS:: NC_000017.11:g.81418774_81418775del, NC_000017.10:g.79392574_79392575del, NW_025791805.1:g.73415_73416del, NW_003871087.1:g.73412_73413del

Select item 149130270114.

rs1491302701 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:81397413 (GRCh38)
17:79371213 (GRCh37)
Canonical SPDI:: NC_000017.11:81397411:ACA:A
Gene:: BAHCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000247/4 (ALFA)
-=0.000195/24 (GnomAD)
HGVS:: NC_000017.11:g.81397413_81397414del, NC_000017.10:g.79371213_79371214del, NW_025791805.1:g.52051_52052del, NW_003871087.1:g.52051_52052del

Select item 149128014915.

rs1491280149 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:81396199 (GRCh38)
17:79369999 (GRCh37)
Canonical SPDI:: NC_000017.11:81396198:CT:
Gene:: BAHCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81396199_81396200del, NC_000017.10:g.79369999_79370000del, NW_025791805.1:g.50837_50838del, NW_003871087.1:g.50837_50838del

Select item 149122319416.

rs1491223194 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:81397391 (GRCh38)
17:79371192 (GRCh37)
Canonical SPDI:: NC_000017.11:81397391:A:AA
Gene:: BAHCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000069/8 (GnomAD)
HGVS:: NC_000017.11:g.81397392dup, NC_000017.10:g.79371192dup, NW_025791805.1:g.52030dup, NW_003871087.1:g.52030dup

Select item 149112932917.

rs1491129329 has merged into rs70938163 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 17:81418823 (GRCh38)
17:79392623 (GRCh37)
Canonical SPDI:: NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:81418810:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1364/3 (Vietnamese)
HGVS:: NC_000017.11:g.81418811GT[6], NC_000017.11:g.81418811GT[8], NC_000017.11:g.81418811GT[9], NC_000017.11:g.81418811GT[10], NC_000017.11:g.81418811GT[12], NC_000017.11:g.81418811GT[13], NC_000017.11:g.81418811GT[14], NC_000017.11:g.81418811GT[15], NC_000017.11:g.81418811GT[16], NC_000017.11:g.81418811GT[17], NC_000017.11:g.81418811GT[18], NC_000017.11:g.81418811GT[19], NC_000017.11:g.81418811GT[20], NC_000017.11:g.81418811GT[24], NC_000017.10:g.79392611GT[6], NC_000017.10:g.79392611GT[8], NC_000017.10:g.79392611GT[9], NC_000017.10:g.79392611GT[10], NC_000017.10:g.79392611GT[12], NC_000017.10:g.79392611GT[13], NC_000017.10:g.79392611GT[14], NC_000017.10:g.79392611GT[15], NC_000017.10:g.79392611GT[16], NC_000017.10:g.79392611GT[17], NC_000017.10:g.79392611GT[18], NC_000017.10:g.79392611GT[19], NC_000017.10:g.79392611GT[20], NC_000017.10:g.79392611GT[24], NW_025791805.1:g.73472GT[9], NW_025791805.1:g.73472GT[11], NW_025791805.1:g.73472GT[12], NW_025791805.1:g.73472GT[13], NW_025791805.1:g.73472GT[15], NW_025791805.1:g.73472GT[16], NW_025791805.1:g.73472GT[17], NW_025791805.1:g.73472GT[18], NW_025791805.1:g.73472GT[19], NW_025791805.1:g.73472GT[20], NW_025791805.1:g.73472GT[21], NW_025791805.1:g.73472GT[22], NW_025791805.1:g.73472GT[23], NW_025791805.1:g.73472GT[27], NW_003871087.1:g.73449GT[6], NW_003871087.1:g.73449GT[8], NW_003871087.1:g.73449GT[9], NW_003871087.1:g.73449GT[10], NW_003871087.1:g.73449GT[12], NW_003871087.1:g.73449GT[13], NW_003871087.1:g.73449GT[14], NW_003871087.1:g.73449GT[15], NW_003871087.1:g.73449GT[16], NW_003871087.1:g.73449GT[17], NW_003871087.1:g.73449GT[18], NW_003871087.1:g.73449GT[19], NW_003871087.1:g.73449GT[20], NW_003871087.1:g.73449GT[24]

Select item 149112269518.

rs1491122695 has merged into rs539655672 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGCACGCATGTGTGTGTGTGT,GTGCGAGCATGTGTGTGTGTGT,GTGCGCACATGTGTGTGTGTGT,GTGCGCATGTGTGTGTGTGT,GTGCGCGCATGTGTGTGTGCGCGCATGTGTGTGTGTGT,GTGCGCGCATGTGTGTGTGTGCGCGCATGTGTGTGTGTGT,GTGCGCGCATGTGTGTGTGTGT,GTGCGCGCATGTGTGTGTGTGTGT,GTGCGCGCGCATGTGTGTGTGTGT,GTGCGCGCGTGTGTGTGTGTGT,GTGCGTGCATGTGTGTGTGTGT,GTGT,GTGTGCGCATGTGTGTGTGTGT,GTGTGCGCGCATGTGTGTGTGTGT,GTGTGCGCGTGTGTGTGTGTGT,GTGTGT,GTGTGTGCATGTGTGTGTGTGT,GTGTGTGCGCGCATGTGTGTGTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 17:81418807 (GRCh38)
17:79392607 (GRCh37)
Canonical SPDI:: NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCACGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGAGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCACATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCGCATGTGTGTGTGCGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCGCATGTGTGTGTGTGCGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCGCATGTGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGCGCGTGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGCGTGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGTGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGTGCGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGTGCGCGTGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGTGTGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGTGTGCGCGCATGTGTGTGTGTGT,NC_000017.11:81418796:GTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGCACGCATGTGTGTGTGTGT=0./0 (ALFA)
-=0.30891/1547 (1000Genomes)
HGVS:: NC_000017.11:g.81418797GT[5], NC_000017.11:g.81418797_81418808GT[6]GCACGCATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[6]GCGAGCATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[6]GC[2]ACATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[6]GC[2]ATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[6]GCGCGCATGTGTGTGT[2]GT[2], NC_000017.11:g.81418797_81418808GT[6]GCGCGCATGTGTGTGTGT[2]GT[1], NC_000017.11:g.81418797_81418808GT[6]GC[3]ATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[6]GC[3]ATGTGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[6]GC[4]ATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[6]GC[3]GT[7], NC_000017.11:g.81418797_81418808GT[6]GCGTGCATGTGTGTGTGTGT[1], NC_000017.11:g.81418797GT[7], NC_000017.11:g.81418797_81418808GT[7]GC[2]ATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[7]GC[3]ATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[7]GC[2]GT[7], NC_000017.11:g.81418797GT[8], NC_000017.11:g.81418797_81418808GT[8]GCATGTGTGTGTGTGT[1], NC_000017.11:g.81418797_81418808GT[8]GC[3]ATGTGTGTGTGTGT[1], NC_000017.11:g.81418797GT[9], NC_000017.10:g.79392597GT[5], NC_000017.10:g.79392597_79392608GT[6]GCACGCATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[6]GCGAGCATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[6]GC[2]ACATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[6]GC[2]ATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[6]GCGCGCATGTGTGTGT[2]GT[2], NC_000017.10:g.79392597_79392608GT[6]GCGCGCATGTGTGTGTGT[2]GT[1], NC_000017.10:g.79392597_79392608GT[6]GC[3]ATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[6]GC[3]ATGTGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[6]GC[4]ATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[6]GC[3]GT[7], NC_000017.10:g.79392597_79392608GT[6]GCGTGCATGTGTGTGTGTGT[1], NC_000017.10:g.79392597GT[7], NC_000017.10:g.79392597_79392608GT[7]GC[2]ATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[7]GC[3]ATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[7]GC[2]GT[7], NC_000017.10:g.79392597GT[8], NC_000017.10:g.79392597_79392608GT[8]GCATGTGTGTGTGTGT[1], NC_000017.10:g.79392597_79392608GT[8]GC[3]ATGTGTGTGTGTGT[1], NC_000017.10:g.79392597GT[9], NW_025791805.1:g.73439TG[5], NW_025791805.1:g.73438_73451GT[6]GCACGCATGTGTGTGTGTGTGC[1], NW_025791805.1:g.73438_73452GT[6]GCGAGCATGTGTGTGTGTGTGCG[1], NW_025791805.1:g.73438_73453GT[6]GC[2]ACATGTGTGTGTGTGTGCGC[1], NW_025791805.1:g.73438_73453GT[6]GC[2]ATGTGTGTGTGTGTGCGC[1], NW_025791805.1:g.73438_73466GT[6]GCGCGCATGTGTGTGT[2]GT[2]GC[3]ATGTGTGTGTG[1], NW_025791805.1:g.73438_73468GT[6]GCGCGCATGTGTGTGTGT[2]GTGCGCGCATGTGTGTGTGTG[1], NW_025791805.1:g.73450_73469dup, NW_025791805.1:g.73448_73469dup, NW_025791805.1:g.73438_73455GT[6]GC[4]ATGTGTGTGTGTGTGCGCGC[1], NW_025791805.1:g.73438_73455GT[6]GC[3]GT[7]GC[3], NW_025791805.1:g.73438_73452GT[6]GCGTGCATGTGTGTGTGTGTGCG[1], NW_025791805.1:g.73439TG[7], NW_025791805.1:g.73438_73450GT[7]GC[2]ATGTGTGTGTGTGTG[1], NW_025791805.1:g.73438_73450GT[7]GC[3]ATGTGTGTGTGTGTG[1], NW_025791805.1:g.73438_73450GT[7]GC[2]GT[7]G[1], NW_025791805.1:g.73439TG[8], NW_025791805.1:g.73438_73450GT[8]GCATGTGTGTGTGTGTG[1], NW_025791805.1:g.73438_73450GT[8]GC[3]ATGTGTGTGTGTGTG[1], NW_025791805.1:g.73439TG[9]

Select item 149096742619.

rs1490967426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:81436763 (GRCh38)
17:79403789 (GRCh37)
Canonical SPDI:: NC_000017.11:81436762:T:G
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.81436763T>G, NC_000017.10:g.79403789T>G, NW_025791805.1:g.92990T>G, NW_003871087.1:g.91401T>G

Select item 149096495920.

rs1490964959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:81400181 (GRCh38)
17:79373981 (GRCh37)
Canonical SPDI:: NC_000017.11:81400180:C:A,NC_000017.11:81400180:C:G
Gene:: BAHCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.81400181C>A, NC_000017.11:g.81400181C>G, NC_000017.10:g.79373981C>A, NC_000017.10:g.79373981C>G, NW_025791805.1:g.54819C>A, NW_025791805.1:g.54819C>G, NW_003871087.1:g.54819C>A, NW_003871087.1:g.54819C>G

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