SNP Links for Gene (Select 63917) - SNP

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Select item 14915750491.

rs1491575049 has merged into rs35797393 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 7:152101653 (GRCh38)
7:151798738 (GRCh37)
Canonical SPDI:: NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGG,NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000007.14:152101642:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG
Gene:: GALNT11 (Varview), LOC731075 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGG=0./0 (ALFA)
-=0.1268/635 (1000Genomes)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000007.14:g.152101653_152101654del, NC_000007.14:g.152101654del, NC_000007.14:g.152101654dup, NC_000007.14:g.152101653_152101654dup, NC_000007.14:g.152101652_152101654dup, NC_000007.14:g.152101651_152101654dup, NC_000007.14:g.152101650_152101654dup, NC_000007.13:g.151798738_151798739del, NC_000007.13:g.151798739del, NC_000007.13:g.151798739dup, NC_000007.13:g.151798738_151798739dup, NC_000007.13:g.151798737_151798739dup, NC_000007.13:g.151798736_151798739dup, NC_000007.13:g.151798735_151798739dup

Select item 14915158362.

rs1491515836 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 7:152069978 (GRCh38)
7:151767064 (GRCh37)
Canonical SPDI:: NC_000007.14:152069978:T:TCT
Gene:: GALNT11 (Varview), LOC124901844 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000007.14:g.152069979_152069980insCT, NC_000007.13:g.151767064_151767065insCT

Select item 14915148093.

rs1491514809 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:152076061 (GRCh38)
7:151773146 (GRCh37)
Canonical SPDI:: NC_000007.14:152076060:CA:
Gene:: GALNT11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00042/5 (ALFA)
-=0.00092/24 (TOMMO)
HGVS:: NC_000007.14:g.152076061_152076062del, NC_000007.13:g.151773146_151773147del

Select item 14914863944.

rs1491486394 has merged into rs879494057 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:152070001 (GRCh38)
7:151767086 (GRCh37)
Canonical SPDI:: NC_000007.14:152069997:TTTTT:TTT,NC_000007.14:152069997:TTTTT:TTTT,NC_000007.14:152069997:TTTTT:TTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:152069997:TTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GALNT11 (Varview), LOC124901844 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.152070001_152070002del, NC_000007.14:g.152070002del, NC_000007.14:g.152070002dup, NC_000007.14:g.152070001_152070002dup, NC_000007.14:g.152070000_152070002dup, NC_000007.14:g.152069999_152070002dup, NC_000007.14:g.152069998_152070002dup, NC_000007.14:g.152070002_152070003insTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.152070002_152070003insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767086_151767087del, NC_000007.13:g.151767087del, NC_000007.13:g.151767087dup, NC_000007.13:g.151767086_151767087dup, NC_000007.13:g.151767085_151767087dup, NC_000007.13:g.151767084_151767087dup, NC_000007.13:g.151767083_151767087dup, NC_000007.13:g.151767087_151767088insTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.151767087_151767088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914710185.

rs1491471018 has merged into rs71198757 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:152076074 (GRCh38)
7:151773159 (GRCh37)
Canonical SPDI:: NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:152076061:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GALNT11 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000007.14:g.152076074_152076090del, NC_000007.14:g.152076075_152076090del, NC_000007.14:g.152076076_152076090del, NC_000007.14:g.152076077_152076090del, NC_000007.14:g.152076078_152076090del, NC_000007.14:g.152076079_152076090del, NC_000007.14:g.152076080_152076090del, NC_000007.14:g.152076081_152076090del, NC_000007.14:g.152076082_152076090del, NC_000007.14:g.152076083_152076090del, NC_000007.14:g.152076084_152076090del, NC_000007.14:g.152076085_152076090del, NC_000007.14:g.152076086_152076090del, NC_000007.14:g.152076087_152076090del, NC_000007.14:g.152076088_152076090del, NC_000007.14:g.152076089_152076090del, NC_000007.14:g.152076090del, NC_000007.14:g.152076090dup, NC_000007.14:g.152076089_152076090dup, NC_000007.14:g.152076088_152076090dup, NC_000007.14:g.152076087_152076090dup, NC_000007.14:g.152076086_152076090dup, NC_000007.14:g.152076085_152076090dup, NC_000007.14:g.152076084_152076090dup, NC_000007.14:g.152076083_152076090dup, NC_000007.14:g.152076082_152076090dup, NC_000007.14:g.152076080_152076090dup, NC_000007.13:g.151773159_151773175del, NC_000007.13:g.151773160_151773175del, NC_000007.13:g.151773161_151773175del, NC_000007.13:g.151773162_151773175del, NC_000007.13:g.151773163_151773175del, NC_000007.13:g.151773164_151773175del, NC_000007.13:g.151773165_151773175del, NC_000007.13:g.151773166_151773175del, NC_000007.13:g.151773167_151773175del, NC_000007.13:g.151773168_151773175del, NC_000007.13:g.151773169_151773175del, NC_000007.13:g.151773170_151773175del, NC_000007.13:g.151773171_151773175del, NC_000007.13:g.151773172_151773175del, NC_000007.13:g.151773173_151773175del, NC_000007.13:g.151773174_151773175del, NC_000007.13:g.151773175del, NC_000007.13:g.151773175dup, NC_000007.13:g.151773174_151773175dup, NC_000007.13:g.151773173_151773175dup, NC_000007.13:g.151773172_151773175dup, NC_000007.13:g.151773171_151773175dup, NC_000007.13:g.151773170_151773175dup, NC_000007.13:g.151773169_151773175dup, NC_000007.13:g.151773168_151773175dup, NC_000007.13:g.151773167_151773175dup, NC_000007.13:g.151773165_151773175dup

Select item 14914692536.

rs1491469253 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AC [Show Flanks]
Chromosome:: 7:152047710 (GRCh38)
7:151744796 (GRCh37)
Canonical SPDI:: NC_000007.14:152047710:C:CAC
Gene:: GALNT11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
CA=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.152047711_152047712insAC, NC_000007.13:g.151744796_151744797insAC

Select item 14914043667.

rs1491404366 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:152072922 (GRCh38)
7:151770007 (GRCh37)
Canonical SPDI:: NC_000007.14:152072918:TTTTT:TTT
Gene:: GALNT11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.152072922_152072923del, NC_000007.13:g.151770007_151770008del

Select item 14913698448.

rs1491369844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:152058263 (GRCh38)
7:151755349 (GRCh37)
Canonical SPDI:: NC_000007.14:152058263:A:AA
Gene:: GALNT11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.152058264dup, NC_000007.13:g.151755349dup

Select item 14913430539.

rs1491343053 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:152102981 (GRCh38)
7:151800066 (GRCh37)
Canonical SPDI:: NC_000007.14:152102980:CA:
Gene:: GALNT11 (Varview), LOC731075 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000007.14:g.152102981_152102982del, NC_000007.13:g.151800066_151800067del

Select item 149120616810.

rs1491206168 [Homo sapiens]

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

Select item 149119640611.

rs1491196406 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:152058266 (GRCh38)
7:151755351 (GRCh37)
Canonical SPDI:: NC_000007.14:152058262:GAGAG:GAG
Gene:: GALNT11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAG=0.000142/2 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.152058264AG[1], NC_000007.13:g.151755349AG[1]

Select item 149116946112.

rs1491169461 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 7:152101643 (GRCh38)
7:151798729 (GRCh37)
Canonical SPDI:: NC_000007.14:152101643:G:GCG
Gene:: GALNT11 (Varview), LOC731075 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GC=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.152101644_152101645insCG, NC_000007.13:g.151798729_151798730insCG

Select item 149114485013.

rs1491144850 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TGG,TGGG,TGGGG,TGGGGGGG [Show Flanks]
Chromosome:: 7:152101642 (GRCh38)
7:151798728 (GRCh37)
Canonical SPDI:: NC_000007.14:152101642::TG,NC_000007.14:152101642::TGG,NC_000007.14:152101642::TGGG,NC_000007.14:152101642::TGGGG,NC_000007.14:152101642::TGGGGGGG
Gene:: GALNT11 (Varview), LOC731075 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGG=0./0 (ALFA)
HGVS:: NC_000007.14:g.152101642_152101643insTG, NC_000007.14:g.152101642_152101643insTGG, NC_000007.14:g.152101642_152101643insTGGG, NC_000007.14:g.152101642_152101643insTGGGG, NC_000007.14:g.152101642_152101643insTGGGGGGG, NC_000007.13:g.151798727_151798728insTG, NC_000007.13:g.151798727_151798728insTGG, NC_000007.13:g.151798727_151798728insTGGG, NC_000007.13:g.151798727_151798728insTGGGG, NC_000007.13:g.151798727_151798728insTGGGGGGG

Select item 149114243014.

rs1491142430 has merged into rs1554418398 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC [Show Flanks]
Chromosome:: 7:152047712 (GRCh38)
7:151744797 (GRCh37)
Canonical SPDI:: NC_000007.14:152047709:GCGC:GC,NC_000007.14:152047709:GCGC:GCGCGC,NC_000007.14:152047709:GCGC:GCGCGCGC
Gene:: GALNT11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGC=0./0 (ALFA)
HGVS:: NC_000007.14:g.152047710GC[1], NC_000007.14:g.152047710GC[3], NC_000007.14:g.152047710GC[4], NC_000007.13:g.151744795GC[1], NC_000007.13:g.151744795GC[3], NC_000007.13:g.151744795GC[4]

Select item 149112857415.

rs1491128574 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:152101642 (GRCh38)
7:151798727 (GRCh37)
Canonical SPDI:: NC_000007.14:152101641:TG:
Gene:: GALNT11 (Varview), LOC731075 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000061/7 (GnomAD)
HGVS:: NC_000007.14:g.152101642_152101643del, NC_000007.13:g.151798727_151798728del

Select item 149109356516.

rs1491093565 has merged into rs567631964 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 7:152069982 (GRCh38)
7:151767067 (GRCh37)
Canonical SPDI:: NC_000007.14:152069977:TTTTTT:TTTT,NC_000007.14:152069977:TTTTTT:TTTTTTT
Gene:: GALNT11 (Varview), LOC124901844 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.152069982_152069983del, NC_000007.14:g.152069983dup, NC_000007.13:g.151767067_151767068del, NC_000007.13:g.151767068dup

Select item 149105825017.

rs1491058250 has merged into rs556799299 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 7:152025183 (GRCh38)
7:151722268 (GRCh37)
Canonical SPDI:: NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:152025173:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: GALNT11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TTTT=0.000004/1 (TOPMED)
-=0.000599/3 (1000Genomes)
T=0.02/12 (NorthernSweden)
HGVS:: NC_000007.14:g.152025183_152025188del, NC_000007.14:g.152025185_152025188del, NC_000007.14:g.152025186_152025188del, NC_000007.14:g.152025187_152025188del, NC_000007.14:g.152025188del, NC_000007.14:g.152025188dup, NC_000007.14:g.152025187_152025188dup, NC_000007.14:g.152025186_152025188dup, NC_000007.14:g.152025185_152025188dup, NC_000007.13:g.151722268_151722273del, NC_000007.13:g.151722270_151722273del, NC_000007.13:g.151722271_151722273del, NC_000007.13:g.151722272_151722273del, NC_000007.13:g.151722273del, NC_000007.13:g.151722273dup, NC_000007.13:g.151722272_151722273dup, NC_000007.13:g.151722271_151722273dup, NC_000007.13:g.151722270_151722273dup

Select item 149098563718.

rs1490985637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:152054513 (GRCh38)
7:151751598 (GRCh37)
Canonical SPDI:: NC_000007.14:152054512:T:C
Gene:: GALNT11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000253/3 (ALFA)
C=0.000312/2 (1000Genomes)
C=0.000391/53 (GnomAD)
HGVS:: NC_000007.14:g.152054513T>C, NC_000007.13:g.151751598T>C

Select item 149098082019.

rs1490980820 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:152057449 (GRCh38)
7:151754534 (GRCh37)
Canonical SPDI:: NC_000007.14:152057448:G:A
Gene:: GALNT11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.152057449G>A, NC_000007.13:g.151754534G>A

Select item 149097846620.

rs1490978466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:152114677 (GRCh38)
7:151811762 (GRCh37)
Canonical SPDI:: NC_000007.14:152114676:C:A
Gene:: GALNT11 (Varview), LOC731075 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.152114677C>A, NC_000007.13:g.151811762C>A

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