SNP Links for Gene (Select 27106) - SNP

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Select item 14915601961.

rs1491560196 has merged into rs1199036855 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 19:18000912 (GRCh38)
19:18111721 (GRCh37)
Canonical SPDI:: NC_000019.10:18000905:GGGGGGGG:GGGGGG,NC_000019.10:18000905:GGGGGGGG:GGGGGGG,NC_000019.10:18000905:GGGGGGGG:GGGGGGGGG,NC_000019.10:18000905:GGGGGGGG:GGGGGGGGGG,NC_000019.10:18000905:GGGGGGGG:GGGGGGGGGGG,NC_000019.10:18000905:GGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: ARRDC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.00023/3 (TOMMO)
HGVS:: NC_000019.10:g.18000912_18000913del, NC_000019.10:g.18000913del, NC_000019.10:g.18000913dup, NC_000019.10:g.18000912_18000913dup, NC_000019.10:g.18000911_18000913dup, NC_000019.10:g.18000913_18000914insGGGGGGGGGGGGGGGGGGG, NC_000019.9:g.18111721_18111722del, NC_000019.9:g.18111722del, NC_000019.9:g.18111722dup, NC_000019.9:g.18111721_18111722dup, NC_000019.9:g.18111720_18111722dup, NC_000019.9:g.18111722_18111723insGGGGGGGGGGGGGGGGGGG, NG_029893.1:g.54611_54612del, NG_029893.1:g.54612del, NG_029893.1:g.54612dup, NG_029893.1:g.54611_54612dup, NG_029893.1:g.54610_54612dup, NG_029893.1:g.54612_54613insGGGGGGGGGGGGGGGGGGG

Select item 14914284972.

rs1491428497 has merged into rs71164342 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:18011962 (GRCh38)
19:18122771 (GRCh37)
Canonical SPDI:: NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18011952:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18011962_18011974del, NC_000019.10:g.18011966_18011974del, NC_000019.10:g.18011967_18011974del, NC_000019.10:g.18011968_18011974del, NC_000019.10:g.18011969_18011974del, NC_000019.10:g.18011970_18011974del, NC_000019.10:g.18011971_18011974del, NC_000019.10:g.18011972_18011974del, NC_000019.10:g.18011973_18011974del, NC_000019.10:g.18011974del, NC_000019.10:g.18011974dup, NC_000019.10:g.18011973_18011974dup, NC_000019.10:g.18011972_18011974dup, NC_000019.10:g.18011971_18011974dup, NC_000019.10:g.18011970_18011974dup, NC_000019.10:g.18011968_18011974dup, NC_000019.10:g.18011961_18011974dup, NC_000019.9:g.18122771_18122783del, NC_000019.9:g.18122775_18122783del, NC_000019.9:g.18122776_18122783del, NC_000019.9:g.18122777_18122783del, NC_000019.9:g.18122778_18122783del, NC_000019.9:g.18122779_18122783del, NC_000019.9:g.18122780_18122783del, NC_000019.9:g.18122781_18122783del, NC_000019.9:g.18122782_18122783del, NC_000019.9:g.18122783del, NC_000019.9:g.18122783dup, NC_000019.9:g.18122782_18122783dup, NC_000019.9:g.18122781_18122783dup, NC_000019.9:g.18122780_18122783dup, NC_000019.9:g.18122779_18122783dup, NC_000019.9:g.18122777_18122783dup, NC_000019.9:g.18122770_18122783dup

Select item 14914281353.

rs1491428135 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:18000915 (GRCh38)
19:18111724 (GRCh37)
Canonical SPDI:: NC_000019.10:18000914:AG:
Gene:: ARRDC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
HGVS:: NC_000019.10:g.18000915_18000916del, NC_000019.9:g.18111724_18111725del, NG_029893.1:g.54614_54615del

Select item 14913945594.

rs1491394559 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG [Show Flanks]
Chromosome:: 19:18000906 (GRCh38)
19:18111716 (GRCh37)
Canonical SPDI:: NC_000019.10:18000906:GG:GGCGG
Gene:: ARRDC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCGG=0.017069/277 (ALFA)
GGC=0.080758/8742 (GnomAD)
GGC=0.250509/4066 (TOMMO)
HGVS:: NC_000019.10:g.18000908_18000909insCGG, NC_000019.9:g.18111717_18111718insCGG, NG_029893.1:g.54607_54608insCGG

Select item 14913289405.

rs1491328940 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:18004581 (GRCh38)
19:18115390 (GRCh37)
Canonical SPDI:: NC_000019.10:18004580:CA:
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000038/5 (GnomAD)
HGVS:: NC_000019.10:g.18004581_18004582del, NC_000019.9:g.18115390_18115391del

Select item 14912343816.

rs1491234381 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:18008542 (GRCh38)
19:18119352 (GRCh37)
Canonical SPDI:: NC_000019.10:18008542:G:GG
Gene:: ARRDC2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.18008543dup, NC_000019.9:g.18119352dup, NM_015683.2:c.233dup, NM_015683.1:c.233dup, NM_001286826.2:c.233dup, NM_001286826.1:c.233dup, NP_056498.1:p.Val79fs, NP_001273755.1:p.Val79fs

Select item 14911804787.

rs1491180478 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:18008544 (GRCh38)
19:18119353 (GRCh37)
Canonical SPDI:: NC_000019.10:18008541:CGCG:CG
Gene:: ARRDC2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18008542CG[1], NC_000019.9:g.18119351CG[1], NM_015683.2:c.234_235del, NM_015683.1:c.234_235del, NM_001286826.2:c.234_235del, NM_001286826.1:c.234_235del, NP_056498.1:p.Val79fs, NP_001273755.1:p.Val79fs

Select item 14911036618.

rs1491103661 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGTGGGGGGGG [Show Flanks]
Chromosome:: 19:18000915 (GRCh38)
19:18111725 (GRCh37)
Canonical SPDI:: NC_000019.10:18000915:GGGG:GGGGG,NC_000019.10:18000915:GGGG:GGGGGG,NC_000019.10:18000915:GGGG:GGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGGGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGGGGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000019.10:18000915:GGGG:GGGGGGGGTGGGGGGGG
Gene:: ARRDC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
GGG=0.00052/13 (TOMMO)
HGVS:: NC_000019.10:g.18000919dup, NC_000019.10:g.18000918_18000919dup, NC_000019.10:g.18000917_18000919dup, NC_000019.10:g.18000916_18000919dup, NC_000019.10:g.18000919_18000920insGGGGG, NC_000019.10:g.18000919_18000920insGGGGGG, NC_000019.10:g.18000919_18000920insGGGGGGG, NC_000019.10:g.18000919_18000920insGGGGGGGGGG, NC_000019.10:g.18000919_18000920insGGGGGGGGGGGGG, NC_000019.10:g.18000919_18000920insGGGGGGGGGGGGGG, NC_000019.10:g.18000919_18000920insGGGGGGGGGGGGGGG, NC_000019.10:g.18000919_18000920insGGGGGGGGGGGGGGGG, NC_000019.10:g.18000919_18000920insGGGGGGGGGGGGGGGGG, NC_000019.10:g.18000916_18000919G[8]TGGGGGGGG[1], NC_000019.9:g.18111728dup, NC_000019.9:g.18111727_18111728dup, NC_000019.9:g.18111726_18111728dup, NC_000019.9:g.18111725_18111728dup, NC_000019.9:g.18111728_18111729insGGGGG, NC_000019.9:g.18111728_18111729insGGGGGG, NC_000019.9:g.18111728_18111729insGGGGGGG, NC_000019.9:g.18111728_18111729insGGGGGGGGGG, NC_000019.9:g.18111728_18111729insGGGGGGGGGGGGG, NC_000019.9:g.18111728_18111729insGGGGGGGGGGGGGG, NC_000019.9:g.18111728_18111729insGGGGGGGGGGGGGGG, NC_000019.9:g.18111728_18111729insGGGGGGGGGGGGGGGG, NC_000019.9:g.18111728_18111729insGGGGGGGGGGGGGGGGG, NC_000019.9:g.18111725_18111728G[8]TGGGGGGGG[1], NG_029893.1:g.54618dup, NG_029893.1:g.54617_54618dup, NG_029893.1:g.54616_54618dup, NG_029893.1:g.54615_54618dup, NG_029893.1:g.54618_54619insGGGGG, NG_029893.1:g.54618_54619insGGGGGG, NG_029893.1:g.54618_54619insGGGGGGG, NG_029893.1:g.54618_54619insGGGGGGGGGG, NG_029893.1:g.54618_54619insGGGGGGGGGGGGG, NG_029893.1:g.54618_54619insGGGGGGGGGGGGGG, NG_029893.1:g.54618_54619insGGGGGGGGGGGGGGG, NG_029893.1:g.54618_54619insGGGGGGGGGGGGGGGG, NG_029893.1:g.54618_54619insGGGGGGGGGGGGGGGGG, NG_029893.1:g.54615_54618G[8]TGGGGGGGG[1]

Select item 14910206079.

rs1491020607 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:18000292 (GRCh38)
19:18111101 (GRCh37)
Canonical SPDI:: NC_000019.10:18000289:ACAC:AC
Gene:: KCNN1 (Varview), ARRDC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0.000084/1 (ALFA)
-=0.000072/10 (GnomAD)
HGVS:: NC_000019.10:g.18000290AC[1], NC_000019.9:g.18111099AC[1], NG_029893.1:g.53989AC[1]

Select item 149076662910.

rs1490766629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:18010994 (GRCh38)
19:18121803 (GRCh37)
Canonical SPDI:: NC_000019.10:18010993:G:C,NC_000019.10:18010993:G:T
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18010994G>C, NC_000019.10:g.18010994G>T, NC_000019.9:g.18121803G>C, NC_000019.9:g.18121803G>T

Select item 149047939611.

rs1490479396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:18008600 (GRCh38)
19:18119409 (GRCh37)
Canonical SPDI:: NC_000019.10:18008599:C:A
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.18008600C>A, NC_000019.9:g.18119409C>A

Select item 149045060912.

rs1490450609 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:18005659 (GRCh38)
19:18116468 (GRCh37)
Canonical SPDI:: NC_000019.10:18005658:C:G,NC_000019.10:18005658:C:T
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000058/8 (GnomAD)
T=0.000815/14 (TOMMO)
T=0.003441/10 (KOREAN)
T=0.003955/7 (Korea1K)
HGVS:: NC_000019.10:g.18005659C>G, NC_000019.10:g.18005659C>T, NC_000019.9:g.18116468C>G, NC_000019.9:g.18116468C>T

Select item 149028518113.

rs1490285181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18005199 (GRCh38)
19:18116008 (GRCh37)
Canonical SPDI:: NC_000019.10:18005198:A:G
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18005199A>G, NC_000019.9:g.18116008A>G

Select item 149015536714.

rs1490155367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:18006110 (GRCh38)
19:18116919 (GRCh37)
Canonical SPDI:: NC_000019.10:18006109:G:A
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.18006110G>A, NC_000019.9:g.18116919G>A

Select item 149010724915.

rs1490107249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18010041 (GRCh38)
19:18120850 (GRCh37)
Canonical SPDI:: NC_000019.10:18010040:T:C
Gene:: ARRDC2 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.18010041T>C, NC_000019.9:g.18120850T>C

Select item 148999099916.

rs1489990999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:18005952 (GRCh38)
19:18116761 (GRCh37)
Canonical SPDI:: NC_000019.10:18005951:T:G
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
G=0.00622/18 (KOREAN)
HGVS:: NC_000019.10:g.18005952T>G, NC_000019.9:g.18116761T>G

Select item 148996663117.

rs1489966631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:18005601 (GRCh38)
19:18116410 (GRCh37)
Canonical SPDI:: NC_000019.10:18005600:G:A,NC_000019.10:18005600:G:C,NC_000019.10:18005600:G:T
Gene:: ARRDC2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18005601G>A, NC_000019.10:g.18005601G>C, NC_000019.10:g.18005601G>T, NC_000019.9:g.18116410G>A, NC_000019.9:g.18116410G>C, NC_000019.9:g.18116410G>T

Select item 148972484718.

rs1489724847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18001320 (GRCh38)
19:18112129 (GRCh37)
Canonical SPDI:: NC_000019.10:18001319:C:T
Gene:: ARRDC2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.18001320C>T, NC_000019.9:g.18112129C>T, NM_001025604.3:c.6C>T, NM_001025604.2:c.6C>T, NM_001025604.1:c.6C>T

Select item 148953525019.

rs1489535250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18006348 (GRCh38)
19:18117157 (GRCh37)
Canonical SPDI:: NC_000019.10:18006347:A:G
Gene:: ARRDC2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18006348A>G, NC_000019.9:g.18117157A>G

Select item 148935211520.

rs1489352115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:18006854 (GRCh38)
19:18117663 (GRCh37)
Canonical SPDI:: NC_000019.10:18006853:A:T
Gene:: ARRDC2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.18006854A>T, NC_000019.9:g.18117663A>T

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