SNP Links for Gene (Select 2786) - SNP

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Select item 14915686171.

rs1491568617 has merged into rs57491492 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 1:235592960 (GRCh38)
1:235756260 (GRCh37)
Canonical SPDI:: NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:235592947:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.2736/1370 (1000Genomes)
HGVS:: NC_000001.11:g.235592960_235592965del, NC_000001.11:g.235592961_235592965del, NC_000001.11:g.235592962_235592965del, NC_000001.11:g.235592963_235592965del, NC_000001.11:g.235592964_235592965del, NC_000001.11:g.235592965del, NC_000001.11:g.235592965dup, NC_000001.11:g.235592964_235592965dup, NC_000001.10:g.235756260_235756265del, NC_000001.10:g.235756261_235756265del, NC_000001.10:g.235756262_235756265del, NC_000001.10:g.235756263_235756265del, NC_000001.10:g.235756264_235756265del, NC_000001.10:g.235756265del, NC_000001.10:g.235756265dup, NC_000001.10:g.235756264_235756265dup

Select item 14915492032.

rs1491549203 has merged into rs61512163 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:235637070 (GRCh38)
1:235800370 (GRCh37)
Canonical SPDI:: NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235637057:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GNG4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4223/250 (NorthernSweden)
AA=0.4371/2189 (1000Genomes)
HGVS:: NC_000001.11:g.235637070_235637074del, NC_000001.11:g.235637071_235637074del, NC_000001.11:g.235637072_235637074del, NC_000001.11:g.235637073_235637074del, NC_000001.11:g.235637074del, NC_000001.11:g.235637074dup, NC_000001.11:g.235637073_235637074dup, NC_000001.11:g.235637072_235637074dup, NC_000001.11:g.235637071_235637074dup, NC_000001.11:g.235637069_235637074dup, NC_000001.11:g.235637068_235637074dup, NC_000001.11:g.235637067_235637074dup, NC_000001.10:g.235800370_235800374del, NC_000001.10:g.235800371_235800374del, NC_000001.10:g.235800372_235800374del, NC_000001.10:g.235800373_235800374del, NC_000001.10:g.235800374del, NC_000001.10:g.235800374dup, NC_000001.10:g.235800373_235800374dup, NC_000001.10:g.235800372_235800374dup, NC_000001.10:g.235800371_235800374dup, NC_000001.10:g.235800369_235800374dup, NC_000001.10:g.235800368_235800374dup, NC_000001.10:g.235800367_235800374dup

Select item 14915191983.

rs1491519198 has merged into rs1300951171 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 1:235650268 (GRCh38)
1:235813568 (GRCh37)
Canonical SPDI:: NC_000001.11:235650260:GGGGGGGGG:GGGGGGG,NC_000001.11:235650260:GGGGGGGGG:GGGGGGGG,NC_000001.11:235650260:GGGGGGGGG:GGGGGGGGGG
Gene:: GNG4 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.0036/37 (TOMMO)
HGVS:: NC_000001.11:g.235650268_235650269del, NC_000001.11:g.235650269del, NC_000001.11:g.235650269dup, NC_000001.10:g.235813568_235813569del, NC_000001.10:g.235813569del, NC_000001.10:g.235813569dup

Select item 14914971724.

rs1491497172 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 1:235605963 (GRCh38)
1:235769264 (GRCh37)
Canonical SPDI:: NC_000001.11:235605963:GGG:GGGG,NC_000001.11:235605963:GGG:GGGGG
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.235605966dup, NC_000001.11:g.235605965_235605966dup, NC_000001.10:g.235769266dup, NC_000001.10:g.235769265_235769266dup

Select item 14914875385.

rs1491487538 has merged into rs746989867 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:235597641 (GRCh38)
1:235760941 (GRCh37)
Canonical SPDI:: NC_000001.11:235597630:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:235597630:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:235597630:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:235597630:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:235597630:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:235597630:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:235597630:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: GNG4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TT=0.025/1 (GENOME_DK)
HGVS:: NC_000001.11:g.235597641_235597643del, NC_000001.11:g.235597642_235597643del, NC_000001.11:g.235597643del, NC_000001.11:g.235597643dup, NC_000001.11:g.235597642_235597643dup, NC_000001.11:g.235597641_235597643dup, NC_000001.11:g.235597640_235597643dup, NC_000001.10:g.235760941_235760943del, NC_000001.10:g.235760942_235760943del, NC_000001.10:g.235760943del, NC_000001.10:g.235760943dup, NC_000001.10:g.235760942_235760943dup, NC_000001.10:g.235760941_235760943dup, NC_000001.10:g.235760940_235760943dup

Select item 14914709056.

rs1491470905 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:235606964 (GRCh38)
1:235770264 (GRCh37)
Canonical SPDI:: NC_000001.11:235606963:TG:
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.235606964_235606965del, NC_000001.10:g.235770264_235770265del

Select item 14914575617.

rs1491457561 has merged into rs1553373298 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:235639560 (GRCh38)
1:235802860 (GRCh37)
Canonical SPDI:: NC_000001.11:235639558:TCT:T
Gene:: GNG4 (Varview), LOC124904560 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.00003/3 (GnomAD)
-=0.000685/9 (TOMMO)
HGVS:: NC_000001.11:g.235639560_235639561del, NC_000001.10:g.235802860_235802861del

Select item 14914179378.

rs1491417937 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:235616726 (GRCh38)
1:235780026 (GRCh37)
Canonical SPDI:: NC_000001.11:235616725:AT:
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000016/2 (GnomAD)
HGVS:: NC_000001.11:g.235616726_235616727del, NC_000001.10:g.235780026_235780027del

Select item 14914122079.

rs1491412207 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:235637653 (GRCh38)
1:235800953 (GRCh37)
Canonical SPDI:: NC_000001.11:235637652:CA:
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000001.11:g.235637653_235637654del, NC_000001.10:g.235800953_235800954del

Select item 149135541410.

rs1491355414 has merged into rs369235445 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:235605963 (GRCh38)
1:235769263 (GRCh37)
Canonical SPDI:: NC_000001.11:235605961:GTG:G
Gene:: GNG4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000146/18 (GnomAD)
HGVS:: NC_000001.11:g.235605963_235605964del, NC_000001.10:g.235769263_235769264del

Select item 149134005411.

rs1491340054 has merged into rs35257216 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:235556568 (GRCh38)
1:235719868 (GRCh37)
Canonical SPDI:: NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:235556556:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.235556568_235556578del, NC_000001.11:g.235556572_235556578del, NC_000001.11:g.235556573_235556578del, NC_000001.11:g.235556574_235556578del, NC_000001.11:g.235556575_235556578del, NC_000001.11:g.235556576_235556578del, NC_000001.11:g.235556577_235556578del, NC_000001.11:g.235556578del, NC_000001.11:g.235556578dup, NC_000001.11:g.235556577_235556578dup, NC_000001.11:g.235556576_235556578dup, NC_000001.11:g.235556575_235556578dup, NC_000001.11:g.235556573_235556578dup, NC_000001.10:g.235719868_235719878del, NC_000001.10:g.235719872_235719878del, NC_000001.10:g.235719873_235719878del, NC_000001.10:g.235719874_235719878del, NC_000001.10:g.235719875_235719878del, NC_000001.10:g.235719876_235719878del, NC_000001.10:g.235719877_235719878del, NC_000001.10:g.235719878del, NC_000001.10:g.235719878dup, NC_000001.10:g.235719877_235719878dup, NC_000001.10:g.235719876_235719878dup, NC_000001.10:g.235719875_235719878dup, NC_000001.10:g.235719873_235719878dup, NW_014040927.1:g.200160_200170del, NW_014040927.1:g.200164_200170del, NW_014040927.1:g.200165_200170del, NW_014040927.1:g.200166_200170del, NW_014040927.1:g.200167_200170del, NW_014040927.1:g.200168_200170del, NW_014040927.1:g.200169_200170del, NW_014040927.1:g.200170del, NW_014040927.1:g.200170dup, NW_014040927.1:g.200169_200170dup, NW_014040927.1:g.200168_200170dup, NW_014040927.1:g.200167_200170dup, NW_014040927.1:g.200165_200170dup

Select item 149132233812.

rs1491322338 has merged into rs1351849561 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 1:235600454 (GRCh38)
1:235763754 (GRCh37)
Canonical SPDI:: NC_000001.11:235600442:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:235600442:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.235600444GT[5], NC_000001.11:g.235600444GT[7], NC_000001.10:g.235763744GT[5], NC_000001.10:g.235763744GT[7]

Select item 149131655313.

rs1491316553 has merged into rs1553365373 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:235570874 (GRCh38)
1:235734174 (GRCh37)
Canonical SPDI:: NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:235570862:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.235570864GT[5], NC_000001.11:g.235570864GT[6], NC_000001.11:g.235570864GT[7], NC_000001.11:g.235570864GT[8], NC_000001.11:g.235570864GT[10], NC_000001.11:g.235570864GT[11], NC_000001.11:g.235570864GT[12], NC_000001.11:g.235570864GT[13], NC_000001.11:g.235570864GT[14], NC_000001.11:g.235570864GT[15], NC_000001.11:g.235570864GT[16], NC_000001.11:g.235570864GT[17], NC_000001.10:g.235734164GT[5], NC_000001.10:g.235734164GT[6], NC_000001.10:g.235734164GT[7], NC_000001.10:g.235734164GT[8], NC_000001.10:g.235734164GT[10], NC_000001.10:g.235734164GT[11], NC_000001.10:g.235734164GT[12], NC_000001.10:g.235734164GT[13], NC_000001.10:g.235734164GT[14], NC_000001.10:g.235734164GT[15], NC_000001.10:g.235734164GT[16], NC_000001.10:g.235734164GT[17]

Select item 149131531914.

rs1491315319 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:235638482 (GRCh38)
1:235801782 (GRCh37)
Canonical SPDI:: NC_000001.11:235638481:AT:
Gene:: GNG4 (Varview), LOC124904560 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.0003/20 (GnomAD)
-=0.00053/7 (TOMMO)
-=0.00078/5 (1000Genomes)
-=0.00135/2 (Korea1K)
HGVS:: NC_000001.11:g.235638482_235638483del, NC_000001.10:g.235801782_235801783del

Select item 149131229015.

rs1491312290 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,CGCG [Show Flanks]
Chromosome:: 1:235616743 (GRCh38)
1:235780044 (GRCh37)
Canonical SPDI:: NC_000001.11:235616743:GCGCGCG:GCGCGCGCG,NC_000001.11:235616743:GCGCGCG:GCGCGCGCGCG
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGCG=0.00049/8 (ALFA)
GCGC=0.000023/6 (TOPMED)
GC=0.000354/6 (TOMMO)
GC=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.235616745CG[4], NC_000001.11:g.235616745CG[5], NC_000001.10:g.235780045CG[4], NC_000001.10:g.235780045CG[5]

Select item 149128484416.

rs1491284844 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:235650260 (GRCh38)
1:235813560 (GRCh37)
Canonical SPDI:: NC_000001.11:235650259:TG:
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.235650260_235650261del, NC_000001.10:g.235813560_235813561del

Select item 149124508617.

rs1491245086 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:235570981 (GRCh38)
1:235734281 (GRCh37)
Canonical SPDI:: NC_000001.11:235570980:TG:
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000001.11:g.235570981_235570982del, NC_000001.10:g.235734281_235734282del

Select item 149122015218.

rs1491220152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTGTG [Show Flanks]
Chromosome:: 1:235570863 (GRCh38)
1:235734164 (GRCh37)
Canonical SPDI:: NC_000001.11:235570863:GTGTGTG:GTGTGTGGTGTGTG
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.235570864_235570870dup, NC_000001.10:g.235734164_235734170dup

Select item 149121772119.

rs1491217721 has merged into rs58409885 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:235576070 (GRCh38)
1:235739370 (GRCh37)
Canonical SPDI:: NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:235576060:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GNG4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.3311/1658 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.235576070_235576079del, NC_000001.11:g.235576071_235576079del, NC_000001.11:g.235576073_235576079del, NC_000001.11:g.235576074_235576079del, NC_000001.11:g.235576075_235576079del, NC_000001.11:g.235576076_235576079del, NC_000001.11:g.235576077_235576079del, NC_000001.11:g.235576078_235576079del, NC_000001.11:g.235576079del, NC_000001.11:g.235576079dup, NC_000001.11:g.235576078_235576079dup, NC_000001.11:g.235576077_235576079dup, NC_000001.11:g.235576072_235576079dup, NC_000001.10:g.235739370_235739379del, NC_000001.10:g.235739371_235739379del, NC_000001.10:g.235739373_235739379del, NC_000001.10:g.235739374_235739379del, NC_000001.10:g.235739375_235739379del, NC_000001.10:g.235739376_235739379del, NC_000001.10:g.235739377_235739379del, NC_000001.10:g.235739378_235739379del, NC_000001.10:g.235739379del, NC_000001.10:g.235739379dup, NC_000001.10:g.235739378_235739379dup, NC_000001.10:g.235739377_235739379dup, NC_000001.10:g.235739372_235739379dup

Select item 149119169720.

rs1491191697 has merged into rs34999365 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 1:235638495 (GRCh38)
1:235801795 (GRCh37)
Canonical SPDI:: NC_000001.11:235638482:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:235638482:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:235638482:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:235638482:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: GNG4 (Varview), LOC124904560 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.0003/2 (ALFA)
TT=0.3071/1538 (1000Genomes)
HGVS:: NC_000001.11:g.235638495_235638497del, NC_000001.11:g.235638496_235638497del, NC_000001.11:g.235638497del, NC_000001.11:g.235638497dup, NC_000001.10:g.235801795_235801797del, NC_000001.10:g.235801796_235801797del, NC_000001.10:g.235801797del, NC_000001.10:g.235801797dup

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