SNP Links for Gene (Select 84952) - SNP

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Select item 14915853681.

rs1491585368 has merged into rs569770424 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:57394105 (GRCh38)
15:57686303 (GRCh37)
Canonical SPDI:: NC_000015.10:57394103:TGT:T
Gene:: CGNL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.13379/1587 (ALFA)
TG=0.15179/585 (ALSPAC)
TG=0.19579/726 (TWINSUK)
TG=0.20847/1044 (1000Genomes)
-=0.25/10 (GENOME_DK)
-=0.3265/15934 (GnomAD)
-=0.3647/655 (Korea1K)
-=0.39415/4632 (TOMMO)
HGVS:: NC_000015.10:g.57394105_57394106del, NC_000015.9:g.57686303_57686304del, NG_030584.2:g.22601_22602del

Select item 14915822522.

rs1491582252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTTCT [Show Flanks]
Chromosome:: 15:57473900 (GRCh38)
15:57766099 (GRCh37)
Canonical SPDI:: NC_000015.10:57473900:T:TCT,NC_000015.10:57473900:T:TCTTCT
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTCT=0./0 (ALFA)
HGVS:: NC_000015.10:g.57473901_57473902insCT, NC_000015.10:g.57473901_57473902insCTTCT, NC_000015.9:g.57766099_57766100insCT, NC_000015.9:g.57766099_57766100insCTTCT, NG_030584.2:g.102397_102398insCT, NG_030584.2:g.102397_102398insCTTCT

Select item 14915755653.

rs1491575565 has merged into rs10559176 [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,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:57516168 (GRCh38)
15:57808366 (GRCh37)
Canonical SPDI:: NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57516158:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.57516168_57516181del, NC_000015.10:g.57516169_57516181del, NC_000015.10:g.57516170_57516181del, NC_000015.10:g.57516171_57516181del, NC_000015.10:g.57516172_57516181del, NC_000015.10:g.57516173_57516181del, NC_000015.10:g.57516174_57516181del, NC_000015.10:g.57516175_57516181del, NC_000015.10:g.57516176_57516181del, NC_000015.10:g.57516177_57516181del, NC_000015.10:g.57516178_57516181del, NC_000015.10:g.57516179_57516181del, NC_000015.10:g.57516180_57516181del, NC_000015.10:g.57516181del, NC_000015.10:g.57516181dup, NC_000015.10:g.57516180_57516181dup, NC_000015.10:g.57516179_57516181dup, NC_000015.10:g.57516178_57516181dup, NC_000015.10:g.57516177_57516181dup, NC_000015.10:g.57516176_57516181dup, NC_000015.10:g.57516175_57516181dup, NC_000015.10:g.57516174_57516181dup, NC_000015.10:g.57516173_57516181dup, NC_000015.10:g.57516172_57516181dup, NC_000015.10:g.57516171_57516181dup, NC_000015.10:g.57516170_57516181dup, NC_000015.10:g.57516169_57516181dup, NC_000015.9:g.57808366_57808379del, NC_000015.9:g.57808367_57808379del, NC_000015.9:g.57808368_57808379del, NC_000015.9:g.57808369_57808379del, NC_000015.9:g.57808370_57808379del, NC_000015.9:g.57808371_57808379del, NC_000015.9:g.57808372_57808379del, NC_000015.9:g.57808373_57808379del, NC_000015.9:g.57808374_57808379del, NC_000015.9:g.57808375_57808379del, NC_000015.9:g.57808376_57808379del, NC_000015.9:g.57808377_57808379del, NC_000015.9:g.57808378_57808379del, NC_000015.9:g.57808379del, NC_000015.9:g.57808379dup, NC_000015.9:g.57808378_57808379dup, NC_000015.9:g.57808377_57808379dup, NC_000015.9:g.57808376_57808379dup, NC_000015.9:g.57808375_57808379dup, NC_000015.9:g.57808374_57808379dup, NC_000015.9:g.57808373_57808379dup, NC_000015.9:g.57808372_57808379dup, NC_000015.9:g.57808371_57808379dup, NC_000015.9:g.57808370_57808379dup, NC_000015.9:g.57808369_57808379dup, NC_000015.9:g.57808368_57808379dup, NC_000015.9:g.57808367_57808379dup, NG_030584.2:g.144664_144677del, NG_030584.2:g.144665_144677del, NG_030584.2:g.144666_144677del, NG_030584.2:g.144667_144677del, NG_030584.2:g.144668_144677del, NG_030584.2:g.144669_144677del, NG_030584.2:g.144670_144677del, NG_030584.2:g.144671_144677del, NG_030584.2:g.144672_144677del, NG_030584.2:g.144673_144677del, NG_030584.2:g.144674_144677del, NG_030584.2:g.144675_144677del, NG_030584.2:g.144676_144677del, NG_030584.2:g.144677del, NG_030584.2:g.144677dup, NG_030584.2:g.144676_144677dup, NG_030584.2:g.144675_144677dup, NG_030584.2:g.144674_144677dup, NG_030584.2:g.144673_144677dup, NG_030584.2:g.144672_144677dup, NG_030584.2:g.144671_144677dup, NG_030584.2:g.144670_144677dup, NG_030584.2:g.144669_144677dup, NG_030584.2:g.144668_144677dup, NG_030584.2:g.144667_144677dup, NG_030584.2:g.144666_144677dup, NG_030584.2:g.144665_144677dup

Select item 14915748544.

rs1491574854 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:57516158 (GRCh38)
15:57808356 (GRCh37)
Canonical SPDI:: NC_000015.10:57516157:CA:
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.57516158_57516159del, NC_000015.9:g.57808356_57808357del, NG_030584.2:g.144654_144655del

Select item 14915503815.

rs1491550381 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:57529558 (GRCh38)
15:57821757 (GRCh37)
Canonical SPDI:: NC_000015.10:57529558::C
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00012/11 (GnomAD)
HGVS:: NC_000015.10:g.57529558_57529559insC, NC_000015.9:g.57821756_57821757insC, NG_030584.2:g.158054_158055insC

Select item 14915393786.

rs1491539378 has merged into rs60667956 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTCAAGGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:57483480 (GRCh38)
15:57775678 (GRCh37)
Canonical SPDI:: NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTCAAGGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57483468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.57483480_57483485del, NC_000015.10:g.57483481_57483485del, NC_000015.10:g.57483482_57483485del, NC_000015.10:g.57483483_57483485del, NC_000015.10:g.57483484_57483485del, NC_000015.10:g.57483485del, NC_000015.10:g.57483485dup, NC_000015.10:g.57483484_57483485dup, NC_000015.10:g.57483483_57483485dup, NC_000015.10:g.57483482_57483485dup, NC_000015.10:g.57483481_57483485dup, NC_000015.10:g.57483480_57483485dup, NC_000015.10:g.57483479_57483485dup, NC_000015.10:g.57483469_57483485T[24]CAAGGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.57483478_57483485dup, NC_000015.10:g.57483477_57483485dup, NC_000015.10:g.57483476_57483485dup, NC_000015.10:g.57483475_57483485dup, NC_000015.10:g.57483474_57483485dup, NC_000015.10:g.57483473_57483485dup, NC_000015.10:g.57483472_57483485dup, NC_000015.10:g.57483469_57483485T[34]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.57483485_57483486insTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.57483485_57483486insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57775678_57775683del, NC_000015.9:g.57775679_57775683del, NC_000015.9:g.57775680_57775683del, NC_000015.9:g.57775681_57775683del, NC_000015.9:g.57775682_57775683del, NC_000015.9:g.57775683del, NC_000015.9:g.57775683dup, NC_000015.9:g.57775682_57775683dup, NC_000015.9:g.57775681_57775683dup, NC_000015.9:g.57775680_57775683dup, NC_000015.9:g.57775679_57775683dup, NC_000015.9:g.57775678_57775683dup, NC_000015.9:g.57775677_57775683dup, NC_000015.9:g.57775667_57775683T[24]CAAGGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.57775676_57775683dup, NC_000015.9:g.57775675_57775683dup, NC_000015.9:g.57775674_57775683dup, NC_000015.9:g.57775673_57775683dup, NC_000015.9:g.57775672_57775683dup, NC_000015.9:g.57775671_57775683dup, NC_000015.9:g.57775670_57775683dup, NC_000015.9:g.57775667_57775683T[34]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.57775683_57775684insTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57775683_57775684insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.111976_111981del, NG_030584.2:g.111977_111981del, NG_030584.2:g.111978_111981del, NG_030584.2:g.111979_111981del, NG_030584.2:g.111980_111981del, NG_030584.2:g.111981del, NG_030584.2:g.111981dup, NG_030584.2:g.111980_111981dup, NG_030584.2:g.111979_111981dup, NG_030584.2:g.111978_111981dup, NG_030584.2:g.111977_111981dup, NG_030584.2:g.111976_111981dup, NG_030584.2:g.111975_111981dup, NG_030584.2:g.111965_111981T[24]CAAGGGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_030584.2:g.111974_111981dup, NG_030584.2:g.111973_111981dup, NG_030584.2:g.111972_111981dup, NG_030584.2:g.111971_111981dup, NG_030584.2:g.111970_111981dup, NG_030584.2:g.111969_111981dup, NG_030584.2:g.111968_111981dup, NG_030584.2:g.111965_111981T[34]ATTTTTTTTTTTTTTTTTTTTTTT[1], NG_030584.2:g.111981_111982insTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.111981_111982insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915381687.

rs1491538168 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 15:57391982 (GRCh38)
15:57684180 (GRCh37)
Canonical SPDI:: NC_000015.10:57391980:CTC:C
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.57391982_57391983del, NC_000015.9:g.57684180_57684181del, NG_030584.2:g.20478_20479del

Select item 14915314898.

rs1491531489 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 15:57374536 (GRCh38)
15:57666734 (GRCh37)
Canonical SPDI:: NC_000015.10:57374535:AT:
Gene:: CGNL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.57374536_57374537del, NC_000015.9:g.57666734_57666735del, NG_030584.2:g.3032_3033del

Select item 14915259729.

rs1491525972 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 15:57529610 (GRCh38)
15:57821808 (GRCh37)
Canonical SPDI:: NC_000015.10:57529608:CGC:C
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
-=0.00015/20 (GnomAD)
HGVS:: NC_000015.10:g.57529610_57529611del, NC_000015.9:g.57821808_57821809del, NG_030584.2:g.158106_158107del

Select item 149145746110.

rs1491457461 has merged into rs56016030 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 15:57405772 (GRCh38)
15:57697970 (GRCh37)
Canonical SPDI:: NC_000015.10:57405770:TCTCT:T,NC_000015.10:57405770:TCTCT:TCT
Gene:: CGNL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.0011/18 (TOMMO)
-=0.04722/182 (ALSPAC)
HGVS:: NC_000015.10:g.57405772_57405775del, NC_000015.10:g.57405772CT[1], NC_000015.9:g.57697970_57697973del, NC_000015.9:g.57697970CT[1], NG_030584.2:g.34268_34271del, NG_030584.2:g.34268CT[1]

Select item 149145585211.

rs1491455852 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA,GAA,GAAA,GAAAA,GAAAAA,GAAAAAA,GAAAAAAA,GAAAAAAAA,GAAAAAAAAA,GAAAAAAAAAA,GAAAAAAAAAAA,GAAAAAAAAAAAA,GAAAAAAAAAAAAA,GAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA,GAAAAAAAAAAAAAAAAAACAAA,GAAAAAAAAAATAAAAAAAAAA,GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:57442182 (GRCh38)
15:57734381 (GRCh37)
Canonical SPDI:: NC_000015.10:57442182::GA,NC_000015.10:57442182::GAA,NC_000015.10:57442182::GAAA,NC_000015.10:57442182::GAAAA,NC_000015.10:57442182::GAAAAA,NC_000015.10:57442182::GAAAAAA,NC_000015.10:57442182::GAAAAAAA,NC_000015.10:57442182::GAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA,NC_000015.10:57442182::GAAAAAAAAAAAAAAAAAACAAA,NC_000015.10:57442182::GAAAAAAAAAATAAAAAAAAAA,NC_000015.10:57442182::GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAA=0./0 (ALFA)
GAAAAAAAAAA=0.01394/379 (TOMMO)
HGVS:: NC_000015.10:g.57442182_57442183insGA, NC_000015.10:g.57442182_57442183insGAA, NC_000015.10:g.57442182_57442183insGAAA, NC_000015.10:g.57442182_57442183insGAAAA, NC_000015.10:g.57442182_57442183insGAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAAAAAAAAAACAAA, NC_000015.10:g.57442182_57442183insGAAAAAAAAAATAAAAAAAAAA, NC_000015.10:g.57442182_57442183insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGA, NC_000015.9:g.57734380_57734381insGAA, NC_000015.9:g.57734380_57734381insGAAA, NC_000015.9:g.57734380_57734381insGAAAA, NC_000015.9:g.57734380_57734381insGAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAAAAAAAAAACAAA, NC_000015.9:g.57734380_57734381insGAAAAAAAAAATAAAAAAAAAA, NC_000015.9:g.57734380_57734381insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGA, NG_030584.2:g.70678_70679insGAA, NG_030584.2:g.70678_70679insGAAA, NG_030584.2:g.70678_70679insGAAAA, NG_030584.2:g.70678_70679insGAAAAA, NG_030584.2:g.70678_70679insGAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA, NG_030584.2:g.70678_70679insGAAAAAAAAAAAAAAAAAACAAA, NG_030584.2:g.70678_70679insGAAAAAAAAAATAAAAAAAAAA, NG_030584.2:g.70678_70679insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149145350712.

rs1491453507 has merged into rs59761174 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:57473912 (GRCh38)
15:57766110 (GRCh37)
Canonical SPDI:: NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57473899:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.57473912_57473925del, NC_000015.10:g.57473913_57473925del, NC_000015.10:g.57473914_57473925del, NC_000015.10:g.57473915_57473925del, NC_000015.10:g.57473916_57473925del, NC_000015.10:g.57473917_57473925del, NC_000015.10:g.57473918_57473925del, NC_000015.10:g.57473919_57473925del, NC_000015.10:g.57473920_57473925del, NC_000015.10:g.57473921_57473925del, NC_000015.10:g.57473922_57473925del, NC_000015.10:g.57473923_57473925del, NC_000015.10:g.57473924_57473925del, NC_000015.10:g.57473925del, NC_000015.10:g.57473925dup, NC_000015.10:g.57473924_57473925dup, NC_000015.10:g.57473923_57473925dup, NC_000015.10:g.57473922_57473925dup, NC_000015.10:g.57473921_57473925dup, NC_000015.10:g.57473920_57473925dup, NC_000015.10:g.57473919_57473925dup, NC_000015.10:g.57473918_57473925dup, NC_000015.10:g.57473917_57473925dup, NC_000015.10:g.57473916_57473925dup, NC_000015.10:g.57473915_57473925dup, NC_000015.10:g.57473914_57473925dup, NC_000015.10:g.57473913_57473925dup, NC_000015.10:g.57473911_57473925dup, NC_000015.10:g.57473910_57473925dup, NC_000015.9:g.57766110_57766123del, NC_000015.9:g.57766111_57766123del, NC_000015.9:g.57766112_57766123del, NC_000015.9:g.57766113_57766123del, NC_000015.9:g.57766114_57766123del, NC_000015.9:g.57766115_57766123del, NC_000015.9:g.57766116_57766123del, NC_000015.9:g.57766117_57766123del, NC_000015.9:g.57766118_57766123del, NC_000015.9:g.57766119_57766123del, NC_000015.9:g.57766120_57766123del, NC_000015.9:g.57766121_57766123del, NC_000015.9:g.57766122_57766123del, NC_000015.9:g.57766123del, NC_000015.9:g.57766123dup, NC_000015.9:g.57766122_57766123dup, NC_000015.9:g.57766121_57766123dup, NC_000015.9:g.57766120_57766123dup, NC_000015.9:g.57766119_57766123dup, NC_000015.9:g.57766118_57766123dup, NC_000015.9:g.57766117_57766123dup, NC_000015.9:g.57766116_57766123dup, NC_000015.9:g.57766115_57766123dup, NC_000015.9:g.57766114_57766123dup, NC_000015.9:g.57766113_57766123dup, NC_000015.9:g.57766112_57766123dup, NC_000015.9:g.57766111_57766123dup, NC_000015.9:g.57766109_57766123dup, NC_000015.9:g.57766108_57766123dup, NG_030584.2:g.102408_102421del, NG_030584.2:g.102409_102421del, NG_030584.2:g.102410_102421del, NG_030584.2:g.102411_102421del, NG_030584.2:g.102412_102421del, NG_030584.2:g.102413_102421del, NG_030584.2:g.102414_102421del, NG_030584.2:g.102415_102421del, NG_030584.2:g.102416_102421del, NG_030584.2:g.102417_102421del, NG_030584.2:g.102418_102421del, NG_030584.2:g.102419_102421del, NG_030584.2:g.102420_102421del, NG_030584.2:g.102421del, NG_030584.2:g.102421dup, NG_030584.2:g.102420_102421dup, NG_030584.2:g.102419_102421dup, NG_030584.2:g.102418_102421dup, NG_030584.2:g.102417_102421dup, NG_030584.2:g.102416_102421dup, NG_030584.2:g.102415_102421dup, NG_030584.2:g.102414_102421dup, NG_030584.2:g.102413_102421dup, NG_030584.2:g.102412_102421dup, NG_030584.2:g.102411_102421dup, NG_030584.2:g.102410_102421dup, NG_030584.2:g.102409_102421dup, NG_030584.2:g.102407_102421dup, NG_030584.2:g.102406_102421dup

Select item 149144779713.

rs1491447797 has merged into rs57360097 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:57468243 (GRCh38)
15:57760441 (GRCh37)
Canonical SPDI:: NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57468234:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTT=0.0024/12 (1000Genomes)
HGVS:: NC_000015.10:g.57468243_57468258del, NC_000015.10:g.57468245_57468258del, NC_000015.10:g.57468246_57468258del, NC_000015.10:g.57468249_57468258del, NC_000015.10:g.57468250_57468258del, NC_000015.10:g.57468251_57468258del, NC_000015.10:g.57468252_57468258del, NC_000015.10:g.57468253_57468258del, NC_000015.10:g.57468254_57468258del, NC_000015.10:g.57468255_57468258del, NC_000015.10:g.57468256_57468258del, NC_000015.10:g.57468257_57468258del, NC_000015.10:g.57468258del, NC_000015.10:g.57468258dup, NC_000015.10:g.57468235_57468258T[25]CTTTTTTTTTTTTTTTTTTT[2]T[9], NC_000015.10:g.57468257_57468258dup, NC_000015.10:g.57468256_57468258dup, NC_000015.10:g.57468255_57468258dup, NC_000015.10:g.57468254_57468258dup, NC_000015.10:g.57468253_57468258dup, NC_000015.10:g.57468252_57468258dup, NC_000015.10:g.57468251_57468258dup, NC_000015.10:g.57468250_57468258dup, NC_000015.10:g.57468249_57468258dup, NC_000015.10:g.57468248_57468258dup, NC_000015.10:g.57468247_57468258dup, NC_000015.10:g.57468246_57468258dup, NC_000015.10:g.57468245_57468258dup, NC_000015.10:g.57468244_57468258dup, NC_000015.10:g.57468243_57468258dup, NC_000015.10:g.57468242_57468258dup, NC_000015.10:g.57468240_57468258dup, NC_000015.10:g.57468239_57468258dup, NC_000015.10:g.57468238_57468258dup, NC_000015.10:g.57468237_57468258dup, NC_000015.10:g.57468236_57468258dup, NC_000015.10:g.57468235_57468258dup, NC_000015.10:g.57468258_57468259insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.57468258_57468259insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.57468258_57468259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.57468258_57468259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.57468258_57468259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.57468258_57468259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57760441_57760456del, NC_000015.9:g.57760443_57760456del, NC_000015.9:g.57760444_57760456del, NC_000015.9:g.57760447_57760456del, NC_000015.9:g.57760448_57760456del, NC_000015.9:g.57760449_57760456del, NC_000015.9:g.57760450_57760456del, NC_000015.9:g.57760451_57760456del, NC_000015.9:g.57760452_57760456del, NC_000015.9:g.57760453_57760456del, NC_000015.9:g.57760454_57760456del, NC_000015.9:g.57760455_57760456del, NC_000015.9:g.57760456del, NC_000015.9:g.57760456dup, NC_000015.9:g.57760433_57760456T[25]CTTTTTTTTTTTTTTTTTTT[2]T[9], NC_000015.9:g.57760455_57760456dup, NC_000015.9:g.57760454_57760456dup, NC_000015.9:g.57760453_57760456dup, NC_000015.9:g.57760452_57760456dup, NC_000015.9:g.57760451_57760456dup, NC_000015.9:g.57760450_57760456dup, NC_000015.9:g.57760449_57760456dup, NC_000015.9:g.57760448_57760456dup, NC_000015.9:g.57760447_57760456dup, NC_000015.9:g.57760446_57760456dup, NC_000015.9:g.57760445_57760456dup, NC_000015.9:g.57760444_57760456dup, NC_000015.9:g.57760443_57760456dup, NC_000015.9:g.57760442_57760456dup, NC_000015.9:g.57760441_57760456dup, NC_000015.9:g.57760440_57760456dup, NC_000015.9:g.57760438_57760456dup, NC_000015.9:g.57760437_57760456dup, NC_000015.9:g.57760436_57760456dup, NC_000015.9:g.57760435_57760456dup, NC_000015.9:g.57760434_57760456dup, NC_000015.9:g.57760433_57760456dup, NC_000015.9:g.57760456_57760457insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57760456_57760457insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57760456_57760457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57760456_57760457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57760456_57760457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57760456_57760457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.96739_96754del, NG_030584.2:g.96741_96754del, NG_030584.2:g.96742_96754del, NG_030584.2:g.96745_96754del, NG_030584.2:g.96746_96754del, NG_030584.2:g.96747_96754del, NG_030584.2:g.96748_96754del, NG_030584.2:g.96749_96754del, NG_030584.2:g.96750_96754del, NG_030584.2:g.96751_96754del, NG_030584.2:g.96752_96754del, NG_030584.2:g.96753_96754del, NG_030584.2:g.96754del, NG_030584.2:g.96754dup, NG_030584.2:g.96731_96754T[25]CTTTTTTTTTTTTTTTTTTT[2]T[9], NG_030584.2:g.96753_96754dup, NG_030584.2:g.96752_96754dup, NG_030584.2:g.96751_96754dup, NG_030584.2:g.96750_96754dup, NG_030584.2:g.96749_96754dup, NG_030584.2:g.96748_96754dup, NG_030584.2:g.96747_96754dup, NG_030584.2:g.96746_96754dup, NG_030584.2:g.96745_96754dup, NG_030584.2:g.96744_96754dup, NG_030584.2:g.96743_96754dup, NG_030584.2:g.96742_96754dup, NG_030584.2:g.96741_96754dup, NG_030584.2:g.96740_96754dup, NG_030584.2:g.96739_96754dup, NG_030584.2:g.96738_96754dup, NG_030584.2:g.96736_96754dup, NG_030584.2:g.96735_96754dup, NG_030584.2:g.96734_96754dup, NG_030584.2:g.96733_96754dup, NG_030584.2:g.96732_96754dup, NG_030584.2:g.96731_96754dup, NG_030584.2:g.96754_96755insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.96754_96755insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.96754_96755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.96754_96755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.96754_96755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.96754_96755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149143843414.

rs1491438434 has merged into rs1259900975 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 15:57529559 (GRCh38)
15:57821757 (GRCh37)
Canonical SPDI:: NC_000015.10:57529557:AAA:A,NC_000015.10:57529557:AAA:AAAAA
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00039/7 (TOMMO)
HGVS:: NC_000015.10:g.57529559_57529560del, NC_000015.10:g.57529559_57529560dup, NC_000015.9:g.57821757_57821758del, NC_000015.9:g.57821757_57821758dup, NG_030584.2:g.158055_158056del, NG_030584.2:g.158055_158056dup

Select item 149141625515.

rs1491416255 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:57374537 (GRCh38)
15:57666736 (GRCh37)
Canonical SPDI:: NC_000015.10:57374537::G
Gene:: CGNL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00214/194 (GnomAD)
G=0.00673/4 (NorthernSweden)
HGVS:: NC_000015.10:g.57374537_57374538insG, NC_000015.9:g.57666735_57666736insG, NG_030584.2:g.3033_3034insG

Select item 149141513316.

rs1491415133 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:57375711 (GRCh38)
15:57667909 (GRCh37)
Canonical SPDI:: NC_000015.10:57375709:ACA:A
Gene:: CGNL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.57375711_57375712del, NC_000015.9:g.57667909_57667910del, NG_030584.2:g.4207_4208del

Select item 149140628517.

rs1491406285 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:57379065 (GRCh38)
15:57671263 (GRCh37)
Canonical SPDI:: NC_000015.10:57379063:GAG:G
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0049/18 (TWINSUK)
-=0.0065/25 (ALSPAC)
HGVS:: NC_000015.10:g.57379065_57379066del, NC_000015.9:g.57671263_57671264del, NG_030584.2:g.7561_7562del

Select item 149140102018.

rs1491401020 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTC [Show Flanks]
Chromosome:: 15:57405779 (GRCh38)
15:57697978 (GRCh37)
Canonical SPDI:: NC_000015.10:57405779:TTC:TTCCTTC
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCCTTC=0./0 (ALFA)
HGVS:: NC_000015.10:g.57405782_57405783insCTTC, NC_000015.9:g.57697980_57697981insCTTC, NG_030584.2:g.34278_34279insCTTC

Select item 149139993619.

rs1491399936 has merged into rs201081475 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:57499249 (GRCh38)
15:57791447 (GRCh37)
Canonical SPDI:: NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:57499238:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTT=0./0 (GENOME_DK)
TTTTTTTTTTTTT=0.1765/884 (1000Genomes)
TTTTTTTTTTTTT=0.4193/1616 (ALSPAC)
HGVS:: NC_000015.10:g.57499249_57499262del, NC_000015.10:g.57499250_57499262del, NC_000015.10:g.57499251_57499262del, NC_000015.10:g.57499252_57499262del, NC_000015.10:g.57499253_57499262del, NC_000015.10:g.57499254_57499262del, NC_000015.10:g.57499255_57499262del, NC_000015.10:g.57499256_57499262del, NC_000015.10:g.57499257_57499262del, NC_000015.10:g.57499258_57499262del, NC_000015.10:g.57499259_57499262del, NC_000015.10:g.57499260_57499262del, NC_000015.10:g.57499261_57499262del, NC_000015.10:g.57499262del, NC_000015.10:g.57499262dup, NC_000015.10:g.57499261_57499262dup, NC_000015.10:g.57499260_57499262dup, NC_000015.10:g.57499259_57499262dup, NC_000015.10:g.57499258_57499262dup, NC_000015.10:g.57499257_57499262dup, NC_000015.10:g.57499256_57499262dup, NC_000015.10:g.57499254_57499262dup, NC_000015.10:g.57499252_57499262dup, NC_000015.10:g.57499242_57499262dup, NC_000015.10:g.57499262_57499263insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.57791447_57791460del, NC_000015.9:g.57791448_57791460del, NC_000015.9:g.57791449_57791460del, NC_000015.9:g.57791450_57791460del, NC_000015.9:g.57791451_57791460del, NC_000015.9:g.57791452_57791460del, NC_000015.9:g.57791453_57791460del, NC_000015.9:g.57791454_57791460del, NC_000015.9:g.57791455_57791460del, NC_000015.9:g.57791456_57791460del, NC_000015.9:g.57791457_57791460del, NC_000015.9:g.57791458_57791460del, NC_000015.9:g.57791459_57791460del, NC_000015.9:g.57791460del, NC_000015.9:g.57791460dup, NC_000015.9:g.57791459_57791460dup, NC_000015.9:g.57791458_57791460dup, NC_000015.9:g.57791457_57791460dup, NC_000015.9:g.57791456_57791460dup, NC_000015.9:g.57791455_57791460dup, NC_000015.9:g.57791454_57791460dup, NC_000015.9:g.57791452_57791460dup, NC_000015.9:g.57791450_57791460dup, NC_000015.9:g.57791440_57791460dup, NC_000015.9:g.57791460_57791461insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_030584.2:g.127745_127758del, NG_030584.2:g.127746_127758del, NG_030584.2:g.127747_127758del, NG_030584.2:g.127748_127758del, NG_030584.2:g.127749_127758del, NG_030584.2:g.127750_127758del, NG_030584.2:g.127751_127758del, NG_030584.2:g.127752_127758del, NG_030584.2:g.127753_127758del, NG_030584.2:g.127754_127758del, NG_030584.2:g.127755_127758del, NG_030584.2:g.127756_127758del, NG_030584.2:g.127757_127758del, NG_030584.2:g.127758del, NG_030584.2:g.127758dup, NG_030584.2:g.127757_127758dup, NG_030584.2:g.127756_127758dup, NG_030584.2:g.127755_127758dup, NG_030584.2:g.127754_127758dup, NG_030584.2:g.127753_127758dup, NG_030584.2:g.127752_127758dup, NG_030584.2:g.127750_127758dup, NG_030584.2:g.127748_127758dup, NG_030584.2:g.127738_127758dup, NG_030584.2:g.127758_127759insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149138243220.

rs1491382432 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT,CTTTT,CTTTTTTTT,CTTTTTTTTT [Show Flanks]
Chromosome:: 15:57473899 (GRCh38)
15:57766098 (GRCh37)
Canonical SPDI:: NC_000015.10:57473899:TT:TTCTTT,NC_000015.10:57473899:TT:TTCTTTT,NC_000015.10:57473899:TT:TTCTTTTTTTT,NC_000015.10:57473899:TT:TTCTTTTTTTTT
Gene:: CGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTTT=0./0 (ALFA)
TTCT=0.00499/80 (TOMMO)
HGVS:: NC_000015.10:g.57473901_57473902insCTTT, NC_000015.10:g.57473901_57473902insCTTTT, NC_000015.10:g.57473901_57473902insCTTTTTTTT, NC_000015.10:g.57473901_57473902insCTTTTTTTTT, NC_000015.9:g.57766099_57766100insCTTT, NC_000015.9:g.57766099_57766100insCTTTT, NC_000015.9:g.57766099_57766100insCTTTTTTTT, NC_000015.9:g.57766099_57766100insCTTTTTTTTT, NG_030584.2:g.102397_102398insCTTT, NG_030584.2:g.102397_102398insCTTTT, NG_030584.2:g.102397_102398insCTTTTTTTT, NG_030584.2:g.102397_102398insCTTTTTTTTT

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