SNP Links for Gene (Select 5303) - SNP

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Select item 14915814191.

rs1491581419 has merged into rs758259884 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: X:72222611 (GRCh38)
X:71442461 (GRCh37)
Canonical SPDI:: NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72222595:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.45801/1729 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000023.11:g.72222611_72222616del, NC_000023.11:g.72222613_72222616del, NC_000023.11:g.72222614_72222616del, NC_000023.11:g.72222615_72222616del, NC_000023.11:g.72222616del, NC_000023.11:g.72222616dup, NC_000023.11:g.72222615_72222616dup, NC_000023.11:g.72222614_72222616dup, NC_000023.11:g.72222613_72222616dup, NC_000023.11:g.72222612_72222616dup, NC_000023.10:g.71442461_71442466del, NC_000023.10:g.71442463_71442466del, NC_000023.10:g.71442464_71442466del, NC_000023.10:g.71442465_71442466del, NC_000023.10:g.71442466del, NC_000023.10:g.71442466dup, NC_000023.10:g.71442465_71442466dup, NC_000023.10:g.71442464_71442466dup, NC_000023.10:g.71442463_71442466dup, NC_000023.10:g.71442462_71442466dup, NG_016328.1:g.45936_45941del, NG_016328.1:g.45938_45941del, NG_016328.1:g.45939_45941del, NG_016328.1:g.45940_45941del, NG_016328.1:g.45941del, NG_016328.1:g.45941dup, NG_016328.1:g.45940_45941dup, NG_016328.1:g.45939_45941dup, NG_016328.1:g.45938_45941dup, NG_016328.1:g.45937_45941dup, NG_054897.1:g.21408_21413del, NG_054897.1:g.21410_21413del, NG_054897.1:g.21411_21413del, NG_054897.1:g.21412_21413del, NG_054897.1:g.21413del, NG_054897.1:g.21413dup, NG_054897.1:g.21412_21413dup, NG_054897.1:g.21411_21413dup, NG_054897.1:g.21410_21413dup, NG_054897.1:g.21409_21413dup

Select item 14915684432.

rs1491568443 has merged into rs761255706 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:72259734 (GRCh38)
X:71479584 (GRCh37)
Canonical SPDI:: NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:72259724:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PIN4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.72259734_72259748del, NC_000023.11:g.72259736_72259748del, NC_000023.11:g.72259737_72259748del, NC_000023.11:g.72259738_72259748del, NC_000023.11:g.72259742_72259748del, NC_000023.11:g.72259743_72259748del, NC_000023.11:g.72259744_72259748del, NC_000023.11:g.72259746_72259748del, NC_000023.11:g.72259747_72259748del, NC_000023.11:g.72259748del, NC_000023.11:g.72259748dup, NC_000023.11:g.72259747_72259748dup, NC_000023.11:g.72259746_72259748dup, NC_000023.11:g.72259745_72259748dup, NC_000023.11:g.72259744_72259748dup, NC_000023.11:g.72259743_72259748dup, NC_000023.11:g.72259742_72259748dup, NC_000023.11:g.72259736_72259748dup, NC_000023.10:g.71479584_71479598del, NC_000023.10:g.71479586_71479598del, NC_000023.10:g.71479587_71479598del, NC_000023.10:g.71479588_71479598del, NC_000023.10:g.71479592_71479598del, NC_000023.10:g.71479593_71479598del, NC_000023.10:g.71479594_71479598del, NC_000023.10:g.71479596_71479598del, NC_000023.10:g.71479597_71479598del, NC_000023.10:g.71479598del, NC_000023.10:g.71479598dup, NC_000023.10:g.71479597_71479598dup, NC_000023.10:g.71479596_71479598dup, NC_000023.10:g.71479595_71479598dup, NC_000023.10:g.71479594_71479598dup, NC_000023.10:g.71479593_71479598dup, NC_000023.10:g.71479592_71479598dup, NC_000023.10:g.71479586_71479598dup, NG_016328.1:g.83059_83073del, NG_016328.1:g.83061_83073del, NG_016328.1:g.83062_83073del, NG_016328.1:g.83063_83073del, NG_016328.1:g.83067_83073del, NG_016328.1:g.83068_83073del, NG_016328.1:g.83069_83073del, NG_016328.1:g.83071_83073del, NG_016328.1:g.83072_83073del, NG_016328.1:g.83073del, NG_016328.1:g.83073dup, NG_016328.1:g.83072_83073dup, NG_016328.1:g.83071_83073dup, NG_016328.1:g.83070_83073dup, NG_016328.1:g.83069_83073dup, NG_016328.1:g.83068_83073dup, NG_016328.1:g.83067_83073dup, NG_016328.1:g.83061_83073dup

Select item 14915404183.

rs1491540418 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: X:72261316 (GRCh38)
X:71481167 (GRCh37)
Canonical SPDI:: NC_000023.11:72261316::AA
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
AA=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.72261316_72261317insAA, NC_000023.10:g.71481166_71481167insAA, NG_016328.1:g.84641_84642insAA

Select item 14915045654.

rs1491504565 has merged into rs34336014 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: X:72188028 (GRCh38)
X:71407878 (GRCh37)
Canonical SPDI:: NC_000023.11:72188016:AGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000023.11:72188016:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000023.11:72188016:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000023.11:72188016:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
AG=0.3/12 (GENOME_DK)
AG=0.34914/1318 (1000Genomes)
HGVS:: NC_000023.11:g.72188018GA[5], NC_000023.11:g.72188018GA[6], NC_000023.11:g.72188018GA[8], NC_000023.11:g.72188018GA[9], NC_000023.10:g.71407868GA[5], NC_000023.10:g.71407868GA[6], NC_000023.10:g.71407868GA[8], NC_000023.10:g.71407868GA[9], NG_016328.1:g.11343GA[5], NG_016328.1:g.11343GA[6], NG_016328.1:g.11343GA[8], NG_016328.1:g.11343GA[9]

Select item 14915031295.

rs1491503129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: X:72203864 (GRCh38)
X:71423715 (GRCh37)
Canonical SPDI:: NC_000023.11:72203864:GAG:GAGGAG
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGGAG=0./0 (ALFA)
GAG=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.72203865_72203867dup, NC_000023.10:g.71423715_71423717dup, NG_016328.1:g.27190_27192dup, NG_054897.1:g.40142_40144dup

Select item 14914810436.

rs1491481043 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:72259725 (GRCh38)
X:71479576 (GRCh37)
Canonical SPDI:: NC_000023.11:72259725::C
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.00005/3 (GnomAD)
HGVS:: NC_000023.11:g.72259725_72259726insC, NC_000023.10:g.71479575_71479576insC, NG_016328.1:g.83050_83051insC

Select item 14914619217.

rs1491461921 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: X:72181377 (GRCh38)
X:71401227 (GRCh37)
Canonical SPDI:: NC_000023.11:72181375:CAC:C
Gene:: PIN4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
-=0.000117/31 (TOPMED)
-=0.000273/7 (GnomAD)
-=0.000624/3 (1000Genomes)
HGVS:: NC_000023.11:g.72181377_72181378del, NC_000023.10:g.71401227_71401228del, NG_016328.1:g.4702_4703del

Select item 14913290528.

rs1491329052 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAAAA [Show Flanks]
Chromosome:: X:72185148 (GRCh38)
X:71404999 (GRCh37)
Canonical SPDI:: NC_000023.11:72185148:AAAAAAAA:AAAAAAAAGAAAAAAAA
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAGAAAAAAAA=0.000084/1 (ALFA)
AAAAAAAAG=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.72185149_72185156A[8]GAAAAAAAA[1], NC_000023.10:g.71404999_71405006A[8]GAAAAAAAA[1], NG_016328.1:g.8474_8481A[8]GAAAAAAAA[1]

Select item 14912716719.

rs1491271671 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:72194701 (GRCh38)
X:71414551 (GRCh37)
Canonical SPDI:: NC_000023.11:72194700:CA:
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.72194701_72194702del, NC_000023.10:g.71414551_71414552del, NG_016328.1:g.18026_18027del

Select item 149126506710.

rs1491265067 has merged into rs56123643 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:72194713 (GRCh38)
X:71414563 (GRCh37)
Canonical SPDI:: NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72194701:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1274/368 (ALSPAC)
HGVS:: NC_000023.11:g.72194713_72194726del, NC_000023.11:g.72194714_72194726del, NC_000023.11:g.72194715_72194726del, NC_000023.11:g.72194716_72194726del, NC_000023.11:g.72194717_72194726del, NC_000023.11:g.72194718_72194726del, NC_000023.11:g.72194719_72194726del, NC_000023.11:g.72194720_72194726del, NC_000023.11:g.72194721_72194726del, NC_000023.11:g.72194722_72194726del, NC_000023.11:g.72194723_72194726del, NC_000023.11:g.72194724_72194726del, NC_000023.11:g.72194725_72194726del, NC_000023.11:g.72194726del, NC_000023.11:g.72194726dup, NC_000023.11:g.72194725_72194726dup, NC_000023.11:g.72194724_72194726dup, NC_000023.11:g.72194723_72194726dup, NC_000023.11:g.72194722_72194726dup, NC_000023.10:g.71414563_71414576del, NC_000023.10:g.71414564_71414576del, NC_000023.10:g.71414565_71414576del, NC_000023.10:g.71414566_71414576del, NC_000023.10:g.71414567_71414576del, NC_000023.10:g.71414568_71414576del, NC_000023.10:g.71414569_71414576del, NC_000023.10:g.71414570_71414576del, NC_000023.10:g.71414571_71414576del, NC_000023.10:g.71414572_71414576del, NC_000023.10:g.71414573_71414576del, NC_000023.10:g.71414574_71414576del, NC_000023.10:g.71414575_71414576del, NC_000023.10:g.71414576del, NC_000023.10:g.71414576dup, NC_000023.10:g.71414575_71414576dup, NC_000023.10:g.71414574_71414576dup, NC_000023.10:g.71414573_71414576dup, NC_000023.10:g.71414572_71414576dup, NG_016328.1:g.18038_18051del, NG_016328.1:g.18039_18051del, NG_016328.1:g.18040_18051del, NG_016328.1:g.18041_18051del, NG_016328.1:g.18042_18051del, NG_016328.1:g.18043_18051del, NG_016328.1:g.18044_18051del, NG_016328.1:g.18045_18051del, NG_016328.1:g.18046_18051del, NG_016328.1:g.18047_18051del, NG_016328.1:g.18048_18051del, NG_016328.1:g.18049_18051del, NG_016328.1:g.18050_18051del, NG_016328.1:g.18051del, NG_016328.1:g.18051dup, NG_016328.1:g.18050_18051dup, NG_016328.1:g.18049_18051dup, NG_016328.1:g.18048_18051dup, NG_016328.1:g.18047_18051dup

Select item 149125451211.

rs1491254512 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: X:72261316 (GRCh38)
X:71481166 (GRCh37)
Canonical SPDI:: NC_000023.11:72261315:CC:
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00067/11 (ALFA)
-=0.00031/31 (GnomAD)
-=0.01077/138 (TOMMO)
HGVS:: NC_000023.11:g.72261316_72261317del, NC_000023.10:g.71481166_71481167del, NG_016328.1:g.84641_84642del

Select item 149125194312.

rs1491251943 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:72187510 (GRCh38)
X:71407361 (GRCh37)
Canonical SPDI:: NC_000023.11:72187510:G:GG
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72187511dup, NC_000023.10:g.71407361dup, NG_016328.1:g.10836dup

Select item 149117581213.

rs1491175812 has merged into rs746215043 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:72185159 (GRCh38)
X:71405009 (GRCh37)
Canonical SPDI:: NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72185147:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0./0 (GENOME_DK)
-=0.4313/1628 (1000Genomes)
HGVS:: NC_000023.11:g.72185159_72185166del, NC_000023.11:g.72185161_72185166del, NC_000023.11:g.72185162_72185166del, NC_000023.11:g.72185163_72185166del, NC_000023.11:g.72185164_72185166del, NC_000023.11:g.72185165_72185166del, NC_000023.11:g.72185166del, NC_000023.11:g.72185166dup, NC_000023.11:g.72185165_72185166dup, NC_000023.11:g.72185164_72185166dup, NC_000023.11:g.72185163_72185166dup, NC_000023.11:g.72185161_72185166dup, NC_000023.11:g.72185160_72185166dup, NC_000023.11:g.72185159_72185166dup, NC_000023.11:g.72185158_72185166dup, NC_000023.11:g.72185157_72185166dup, NC_000023.11:g.72185156_72185166dup, NC_000023.11:g.72185155_72185166dup, NC_000023.11:g.72185154_72185166dup, NC_000023.11:g.72185153_72185166dup, NC_000023.11:g.72185152_72185166dup, NC_000023.11:g.72185151_72185166dup, NC_000023.11:g.72185150_72185166dup, NC_000023.11:g.72185149_72185166dup, NC_000023.11:g.72185148_72185166dup, NC_000023.10:g.71405009_71405016del, NC_000023.10:g.71405011_71405016del, NC_000023.10:g.71405012_71405016del, NC_000023.10:g.71405013_71405016del, NC_000023.10:g.71405014_71405016del, NC_000023.10:g.71405015_71405016del, NC_000023.10:g.71405016del, NC_000023.10:g.71405016dup, NC_000023.10:g.71405015_71405016dup, NC_000023.10:g.71405014_71405016dup, NC_000023.10:g.71405013_71405016dup, NC_000023.10:g.71405011_71405016dup, NC_000023.10:g.71405010_71405016dup, NC_000023.10:g.71405009_71405016dup, NC_000023.10:g.71405008_71405016dup, NC_000023.10:g.71405007_71405016dup, NC_000023.10:g.71405006_71405016dup, NC_000023.10:g.71405005_71405016dup, NC_000023.10:g.71405004_71405016dup, NC_000023.10:g.71405003_71405016dup, NC_000023.10:g.71405002_71405016dup, NC_000023.10:g.71405001_71405016dup, NC_000023.10:g.71405000_71405016dup, NC_000023.10:g.71404999_71405016dup, NC_000023.10:g.71404998_71405016dup, NG_016328.1:g.8484_8491del, NG_016328.1:g.8486_8491del, NG_016328.1:g.8487_8491del, NG_016328.1:g.8488_8491del, NG_016328.1:g.8489_8491del, NG_016328.1:g.8490_8491del, NG_016328.1:g.8491del, NG_016328.1:g.8491dup, NG_016328.1:g.8490_8491dup, NG_016328.1:g.8489_8491dup, NG_016328.1:g.8488_8491dup, NG_016328.1:g.8486_8491dup, NG_016328.1:g.8485_8491dup, NG_016328.1:g.8484_8491dup, NG_016328.1:g.8483_8491dup, NG_016328.1:g.8482_8491dup, NG_016328.1:g.8481_8491dup, NG_016328.1:g.8480_8491dup, NG_016328.1:g.8479_8491dup, NG_016328.1:g.8478_8491dup, NG_016328.1:g.8477_8491dup, NG_016328.1:g.8476_8491dup, NG_016328.1:g.8475_8491dup, NG_016328.1:g.8474_8491dup, NG_016328.1:g.8473_8491dup

Select item 149116259714.

rs1491162597 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:72187513 (GRCh38)
X:71407363 (GRCh37)
Canonical SPDI:: NC_000023.11:72187509:AGAGA:AGA
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72187511GA[1], NC_000023.10:g.71407361GA[1], NG_016328.1:g.10836GA[1]

Select item 149106562815.

rs1491065628 has merged into rs35914181 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:72251373 (GRCh38)
X:71471223 (GRCh37)
Canonical SPDI:: NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:72251362:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.0506/191 (1000Genomes)
HGVS:: NC_000023.11:g.72251373_72251375del, NC_000023.11:g.72251374_72251375del, NC_000023.11:g.72251375del, NC_000023.11:g.72251375dup, NC_000023.11:g.72251374_72251375dup, NC_000023.11:g.72251373_72251375dup, NC_000023.11:g.72251372_72251375dup, NC_000023.11:g.72251371_72251375dup, NC_000023.11:g.72251370_72251375dup, NC_000023.11:g.72251369_72251375dup, NC_000023.11:g.72251368_72251375dup, NC_000023.11:g.72251367_72251375dup, NC_000023.11:g.72251366_72251375dup, NC_000023.11:g.72251365_72251375dup, NC_000023.11:g.72251364_72251375dup, NC_000023.11:g.72251363_72251375dup, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.72251375_72251376insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471223_71471225del, NC_000023.10:g.71471224_71471225del, NC_000023.10:g.71471225del, NC_000023.10:g.71471225dup, NC_000023.10:g.71471224_71471225dup, NC_000023.10:g.71471223_71471225dup, NC_000023.10:g.71471222_71471225dup, NC_000023.10:g.71471221_71471225dup, NC_000023.10:g.71471220_71471225dup, NC_000023.10:g.71471219_71471225dup, NC_000023.10:g.71471218_71471225dup, NC_000023.10:g.71471217_71471225dup, NC_000023.10:g.71471216_71471225dup, NC_000023.10:g.71471215_71471225dup, NC_000023.10:g.71471214_71471225dup, NC_000023.10:g.71471213_71471225dup, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.71471225_71471226insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74698_74700del, NG_016328.1:g.74699_74700del, NG_016328.1:g.74700del, NG_016328.1:g.74700dup, NG_016328.1:g.74699_74700dup, NG_016328.1:g.74698_74700dup, NG_016328.1:g.74697_74700dup, NG_016328.1:g.74696_74700dup, NG_016328.1:g.74695_74700dup, NG_016328.1:g.74694_74700dup, NG_016328.1:g.74693_74700dup, NG_016328.1:g.74692_74700dup, NG_016328.1:g.74691_74700dup, NG_016328.1:g.74690_74700dup, NG_016328.1:g.74689_74700dup, NG_016328.1:g.74688_74700dup, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016328.1:g.74700_74701insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149096041316.

rs1490960413 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:72253850 (GRCh38)
X:71473700 (GRCh37)
Canonical SPDI:: NC_000023.11:72253849:T:A
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.72253850T>A, NC_000023.10:g.71473700T>A, NG_016328.1:g.77175T>A

Select item 149085555717.

rs1490855557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:72218425 (GRCh38)
X:71438275 (GRCh37)
Canonical SPDI:: NC_000023.11:72218424:G:T
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.72218425G>T, NC_000023.10:g.71438275G>T, NG_016328.1:g.41750G>T, NG_054897.1:g.25584C>A

Select item 149085117418.

rs1490851174 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72194512 (GRCh38)
X:71414362 (GRCh37)
Canonical SPDI:: NC_000023.11:72194511:G:A
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.00001/1 (GnomAD)
A=0.00021/1 (1000Genomes)
HGVS:: NC_000023.11:g.72194512G>A, NC_000023.10:g.71414362G>A, NG_016328.1:g.17837G>A

Select item 149082524419.

rs1490825244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:72184322 (GRCh38)
X:71404172 (GRCh37)
Canonical SPDI:: NC_000023.11:72184321:G:A
Gene:: PIN4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.72184322G>A, NC_000023.10:g.71404172G>A, NG_016328.1:g.7647G>A

Select item 149072071020.

rs1490720710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:72230122 (GRCh38)
X:71449972 (GRCh37)
Canonical SPDI:: NC_000023.11:72230121:C:G
Gene:: PIN4 (Varview), ERCC6L (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.72230122C>G, NC_000023.10:g.71449972C>G, NG_016328.1:g.53447C>G, NG_054897.1:g.13887G>C

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