SNP Links for Gene (Select 51719) - SNP

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Select item 14915865881.

rs1491586588 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 2:230741047 (GRCh38)
2:231605763 (GRCh37)
Canonical SPDI:: NC_000002.12:230741047:GAGAG:GAGAGAG
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAG=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
GA=0.000007/1 (GnomAD)
GA=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.230741049AG[3], NC_000002.11:g.231605764AG[3]

Select item 14915164562.

rs1491516456 has merged into rs397988179 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:230795289 (GRCh38)
2:231660004 (GRCh37)
Canonical SPDI:: NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:230795276:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
-=0.479/2399 (1000Genomes)
HGVS:: NC_000002.12:g.230795289_230795290del, NC_000002.12:g.230795290del, NC_000002.12:g.230795290dup, NC_000002.12:g.230795289_230795290dup, NC_000002.12:g.230795288_230795290dup, NC_000002.12:g.230795281_230795290dup, NC_000002.11:g.231660004_231660005del, NC_000002.11:g.231660005del, NC_000002.11:g.231660005dup, NC_000002.11:g.231660004_231660005dup, NC_000002.11:g.231660003_231660005dup, NC_000002.11:g.231659996_231660005dup

Select item 14914743093.

rs1491474309 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:230790814 (GRCh38)
2:231655529 (GRCh37)
Canonical SPDI:: NC_000002.12:230790810:TATAT:TAT
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.230790812AT[1], NC_000002.11:g.231655527AT[1]

Select item 14914515204.

rs1491451520 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:230711730 (GRCh38)
2:231576445 (GRCh37)
Canonical SPDI:: NC_000002.12:230711728:TGT:T
Gene:: CAB39 (Varview), LOC124907996 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.230711730_230711731del, NC_000002.11:g.231576445_231576446del

Select item 14913966665.

rs1491396666 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,GTG,GTGTA,GTGTG,GTGTGTG,GTGTGTGTA,GTGTGTGTG,GTGTGTGTGTG,GTGTGTGTGTGTA,GTGTGTGTGTGTG,GTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 2:230727401 (GRCh38)
2:231592117 (GRCh37)
Canonical SPDI:: NC_000002.12:230727401::A,NC_000002.12:230727401::G,NC_000002.12:230727401::GTG,NC_000002.12:230727401::GTGTA,NC_000002.12:230727401::GTGTG,NC_000002.12:230727401::GTGTGTG,NC_000002.12:230727401::GTGTGTGTA,NC_000002.12:230727401::GTGTGTGTG,NC_000002.12:230727401::GTGTGTGTGTG,NC_000002.12:230727401::GTGTGTGTGTGTA,NC_000002.12:230727401::GTGTGTGTGTGTG,NC_000002.12:230727401::GTGTGTGTGTGTGTG,NC_000002.12:230727401::GTGTGTGTGTGTGTGTG,NC_000002.12:230727401::GTGTGTGTGTGTGTGTGTG
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
GTGTA=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.230727401_230727402insA, NC_000002.12:g.230727401_230727402insG, NC_000002.12:g.230727401_230727402insGTG, NC_000002.12:g.230727401_230727402insGTGTA, NC_000002.12:g.230727401_230727402insGTGTG, NC_000002.12:g.230727401_230727402insGTGTGTG, NC_000002.12:g.230727401_230727402insGTGTGTGTA, NC_000002.12:g.230727401_230727402insGTGTGTGTG, NC_000002.12:g.230727401_230727402insGTGTGTGTGTG, NC_000002.12:g.230727401_230727402insGTGTGTGTGTGTA, NC_000002.12:g.230727401_230727402insGTGTGTGTGTGTG, NC_000002.12:g.230727401_230727402insGTGTGTGTGTGTGTG, NC_000002.12:g.230727401_230727402insGTGTGTGTGTGTGTGTG, NC_000002.12:g.230727401_230727402insGTGTGTGTGTGTGTGTGTG, NC_000002.11:g.231592116_231592117insA, NC_000002.11:g.231592116_231592117insG, NC_000002.11:g.231592116_231592117insGTG, NC_000002.11:g.231592116_231592117insGTGTA, NC_000002.11:g.231592116_231592117insGTGTG, NC_000002.11:g.231592116_231592117insGTGTGTG, NC_000002.11:g.231592116_231592117insGTGTGTGTA, NC_000002.11:g.231592116_231592117insGTGTGTGTG, NC_000002.11:g.231592116_231592117insGTGTGTGTGTG, NC_000002.11:g.231592116_231592117insGTGTGTGTGTGTA, NC_000002.11:g.231592116_231592117insGTGTGTGTGTGTG, NC_000002.11:g.231592116_231592117insGTGTGTGTGTGTGTG, NC_000002.11:g.231592116_231592117insGTGTGTGTGTGTGTGTG, NC_000002.11:g.231592116_231592117insGTGTGTGTGTGTGTGTGTG

Select item 14913178346.

rs1491317834 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAA [Show Flanks]
Chromosome:: 2:230748814 (GRCh38)
2:231613530 (GRCh37)
Canonical SPDI:: NC_000002.12:230748814:AAAAA:AAAAAGAAAAA
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAGAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.230748815_230748819A[5]GAAAAA[1], NC_000002.11:g.231613530_231613534A[5]GAAAAA[1]

Select item 14913118977.

rs1491311897 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC,GC [Show Flanks]
Chromosome:: 2:230752030 (GRCh38)
2:231616746 (GRCh37)
Canonical SPDI:: NC_000002.12:230752030:C:CAC,NC_000002.12:230752030:C:CGC
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0./0 (ALFA)
CG=0.000004/1 (TOPMED)
CA=0.000039/1 (TOMMO)
CA=0.031147/340 (GnomAD)
HGVS:: NC_000002.12:g.230752031_230752032insAC, NC_000002.12:g.230752031_230752032insGC, NC_000002.11:g.231616746_231616747insAC, NC_000002.11:g.231616746_231616747insGC

Select item 14913009468.

rs1491300946 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:230790811 (GRCh38)
2:231655527 (GRCh37)
Canonical SPDI:: NC_000002.12:230790811:A:AA
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.230790812dup, NC_000002.11:g.231655527dup

Select item 14913002559.

rs1491300255 has merged into rs1343384694 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTT [Show Flanks]
Chromosome:: 2:230727408 (GRCh38)
2:231592123 (GRCh37)
Canonical SPDI:: NC_000002.12:230727400:TTTTTTTTT:TTTTTTT,NC_000002.12:230727400:TTTTTTTTT:TTTTTTTT,NC_000002.12:230727400:TTTTTTTTT:TTTTTTTTTT,NC_000002.12:230727400:TTTTTTTTT:TTTTTTTTTTTTT
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00008/2 (TOMMO)
HGVS:: NC_000002.12:g.230727408_230727409del, NC_000002.12:g.230727409del, NC_000002.12:g.230727409dup, NC_000002.12:g.230727406_230727409dup, NC_000002.11:g.231592123_231592124del, NC_000002.11:g.231592124del, NC_000002.11:g.231592124dup, NC_000002.11:g.231592121_231592124dup

Select item 149127901110.

rs1491279011 has merged into rs60084225 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 2:230724256 (GRCh38)
2:231588971 (GRCh37)
Canonical SPDI:: NC_000002.12:230724244:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:230724244:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:230724244:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:230724244:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:230724244:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:230724244:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.08434/42 (NorthernSweden)
HGVS:: NC_000002.12:g.230724256_230724259del, NC_000002.12:g.230724257_230724259del, NC_000002.12:g.230724258_230724259del, NC_000002.12:g.230724259del, NC_000002.12:g.230724259dup, NC_000002.12:g.230724258_230724259dup, NC_000002.11:g.231588971_231588974del, NC_000002.11:g.231588972_231588974del, NC_000002.11:g.231588973_231588974del, NC_000002.11:g.231588974del, NC_000002.11:g.231588974dup, NC_000002.11:g.231588973_231588974dup

Select item 149118314111.

rs1491183141 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:230724244 (GRCh38)
2:231588959 (GRCh37)
Canonical SPDI:: NC_000002.12:230724243:CA:
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.230724244_230724245del, NC_000002.11:g.231588959_231588960del

Select item 149117759612.

rs1491177596 has merged into rs759314442 [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,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:230748822 (GRCh38)
2:231613537 (GRCh37)
Canonical SPDI:: NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:230748813:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAAAAAAAA=0.000004/1 (TOPMED)
AAAA=0.35/14 (GENOME_DK)
HGVS:: NC_000002.12:g.230748822_230748832del, NC_000002.12:g.230748823_230748832del, NC_000002.12:g.230748824_230748832del, NC_000002.12:g.230748825_230748832del, NC_000002.12:g.230748826_230748832del, NC_000002.12:g.230748827_230748832del, NC_000002.12:g.230748828_230748832del, NC_000002.12:g.230748829_230748832del, NC_000002.12:g.230748830_230748832del, NC_000002.12:g.230748831_230748832del, NC_000002.12:g.230748832del, NC_000002.12:g.230748832dup, NC_000002.12:g.230748831_230748832dup, NC_000002.12:g.230748830_230748832dup, NC_000002.12:g.230748829_230748832dup, NC_000002.12:g.230748828_230748832dup, NC_000002.12:g.230748827_230748832dup, NC_000002.12:g.230748826_230748832dup, NC_000002.12:g.230748825_230748832dup, NC_000002.12:g.230748824_230748832dup, NC_000002.12:g.230748823_230748832dup, NC_000002.12:g.230748822_230748832dup, NC_000002.12:g.230748819_230748832dup, NC_000002.11:g.231613537_231613547del, NC_000002.11:g.231613538_231613547del, NC_000002.11:g.231613539_231613547del, NC_000002.11:g.231613540_231613547del, NC_000002.11:g.231613541_231613547del, NC_000002.11:g.231613542_231613547del, NC_000002.11:g.231613543_231613547del, NC_000002.11:g.231613544_231613547del, NC_000002.11:g.231613545_231613547del, NC_000002.11:g.231613546_231613547del, NC_000002.11:g.231613547del, NC_000002.11:g.231613547dup, NC_000002.11:g.231613546_231613547dup, NC_000002.11:g.231613545_231613547dup, NC_000002.11:g.231613544_231613547dup, NC_000002.11:g.231613543_231613547dup, NC_000002.11:g.231613542_231613547dup, NC_000002.11:g.231613541_231613547dup, NC_000002.11:g.231613540_231613547dup, NC_000002.11:g.231613539_231613547dup, NC_000002.11:g.231613538_231613547dup, NC_000002.11:g.231613537_231613547dup, NC_000002.11:g.231613534_231613547dup

Select item 149117538213.

rs1491175382 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:230741047 (GRCh38)
2:231605762 (GRCh37)
Canonical SPDI:: NC_000002.12:230741046:TG:
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.230741047_230741048del, NC_000002.11:g.231605762_231605763del

Select item 149114052914.

rs1491140529 has merged into rs1212977897 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:230782821 (GRCh38)
2:231647536 (GRCh37)
Canonical SPDI:: NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:230782813:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.230782821_230782832del, NC_000002.12:g.230782824_230782832del, NC_000002.12:g.230782825_230782832del, NC_000002.12:g.230782826_230782832del, NC_000002.12:g.230782828_230782832del, NC_000002.12:g.230782829_230782832del, NC_000002.12:g.230782830_230782832del, NC_000002.12:g.230782831_230782832del, NC_000002.12:g.230782832del, NC_000002.12:g.230782832dup, NC_000002.12:g.230782831_230782832dup, NC_000002.12:g.230782830_230782832dup, NC_000002.12:g.230782829_230782832dup, NC_000002.12:g.230782828_230782832dup, NC_000002.12:g.230782827_230782832dup, NC_000002.12:g.230782826_230782832dup, NC_000002.12:g.230782825_230782832dup, NC_000002.12:g.230782824_230782832dup, NC_000002.12:g.230782823_230782832dup, NC_000002.12:g.230782822_230782832dup, NC_000002.12:g.230782821_230782832dup, NC_000002.12:g.230782820_230782832dup, NC_000002.12:g.230782819_230782832dup, NC_000002.12:g.230782818_230782832dup, NC_000002.12:g.230782817_230782832dup, NC_000002.12:g.230782816_230782832dup, NC_000002.12:g.230782815_230782832dup, NC_000002.12:g.230782814_230782832dup, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.230782832_230782833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647536_231647547del, NC_000002.11:g.231647539_231647547del, NC_000002.11:g.231647540_231647547del, NC_000002.11:g.231647541_231647547del, NC_000002.11:g.231647543_231647547del, NC_000002.11:g.231647544_231647547del, NC_000002.11:g.231647545_231647547del, NC_000002.11:g.231647546_231647547del, NC_000002.11:g.231647547del, NC_000002.11:g.231647547dup, NC_000002.11:g.231647546_231647547dup, NC_000002.11:g.231647545_231647547dup, NC_000002.11:g.231647544_231647547dup, NC_000002.11:g.231647543_231647547dup, NC_000002.11:g.231647542_231647547dup, NC_000002.11:g.231647541_231647547dup, NC_000002.11:g.231647540_231647547dup, NC_000002.11:g.231647539_231647547dup, NC_000002.11:g.231647538_231647547dup, NC_000002.11:g.231647537_231647547dup, NC_000002.11:g.231647536_231647547dup, NC_000002.11:g.231647535_231647547dup, NC_000002.11:g.231647534_231647547dup, NC_000002.11:g.231647533_231647547dup, NC_000002.11:g.231647532_231647547dup, NC_000002.11:g.231647531_231647547dup, NC_000002.11:g.231647530_231647547dup, NC_000002.11:g.231647529_231647547dup, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.231647547_231647548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149110450415.

rs1491104504 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAC [Show Flanks]
Chromosome:: 2:230752042 (GRCh38)
2:231616758 (GRCh37)
Canonical SPDI:: NC_000002.12:230752042:C:CCAC
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAC=0./0 (ALFA)
CCA=0.00002/2 (GnomAD)
CCA=0.00031/2 (1000Genomes)
HGVS:: NC_000002.12:g.230752043_230752044insCAC, NC_000002.11:g.231616758_231616759insCAC, NG_045059.1:g.3_4insCAC

Select item 149096876416.

rs1490968764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:230729977 (GRCh38)
2:231594692 (GRCh37)
Canonical SPDI:: NC_000002.12:230729976:A:C
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.230729977A>C, NC_000002.11:g.231594692A>C

Select item 149091120917.

rs1490911209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:230808870 (GRCh38)
2:231673585 (GRCh37)
Canonical SPDI:: NC_000002.12:230808869:A:G
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.230808870A>G, NC_000002.11:g.231673585A>G

Select item 149085047818.

rs1490850478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:230780102 (GRCh38)
2:231644817 (GRCh37)
Canonical SPDI:: NC_000002.12:230780101:C:G
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.230780102C>G, NC_000002.11:g.231644817C>G

Select item 149083432119.

rs1490834321 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:230772777 (GRCh38)
2:231637492 (GRCh37)
Canonical SPDI:: NC_000002.12:230772776:G:A
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.230772777G>A, NC_000002.11:g.231637492G>A

Select item 149083300820.

rs1490833008 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:230816780 (GRCh38)
2:231681495 (GRCh37)
Canonical SPDI:: NC_000002.12:230816779:C:T
Gene:: CAB39 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000068/18 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.230816780C>T, NC_000002.11:g.231681495C>T

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