SNP Links for Gene (Select 55860) - SNP

Links from Gene

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Select item 14915554961.

rs1491555496 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 14:58229695 (GRCh38)
14:58696413 (GRCh37)
Canonical SPDI:: NC_000014.9:58229693:AGA:A
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.58229695_58229696del, NC_000014.8:g.58696413_58696414del

Select item 14914803312.

rs1491480331 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:58230764 (GRCh38)
14:58697482 (GRCh37)
Canonical SPDI:: NC_000014.9:58230763:CT:
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58230764_58230765del, NC_000014.8:g.58697482_58697483del

Select item 14914421643.

rs1491442164 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTG [Show Flanks]
Chromosome:: 14:58215321 (GRCh38)
14:58682040 (GRCh37)
Canonical SPDI:: NC_000014.9:58215321::CTG
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000014.9:g.58215321_58215322insCTG, NC_000014.8:g.58682039_58682040insCTG

Select item 14914199874.

rs1491419987 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:58199136 (GRCh38)
14:58665855 (GRCh37)
Canonical SPDI:: NC_000014.9:58199136::A
Gene:: ACTR10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/3 (GnomAD)
HGVS:: NC_000014.9:g.58199136_58199137insA, NC_000014.8:g.58665854_58665855insA

Select item 14913744365.

rs1491374436 has merged into rs67511419 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 14:58230776 (GRCh38)
14:58697494 (GRCh37)
Canonical SPDI:: NC_000014.9:58230764:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:58230764:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:58230764:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:58230764:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:58230764:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.4412/1636 (TWINSUK)
T=0.4437/1710 (ALSPAC)
-=0.465/279 (NorthernSweden)
-=0.4728/2368 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000014.9:g.58230776_58230778del, NC_000014.9:g.58230777_58230778del, NC_000014.9:g.58230778del, NC_000014.9:g.58230778dup, NC_000014.9:g.58230777_58230778dup, NC_000014.8:g.58697494_58697496del, NC_000014.8:g.58697495_58697496del, NC_000014.8:g.58697496del, NC_000014.8:g.58697496dup, NC_000014.8:g.58697495_58697496dup

Select item 14912654876.

rs1491265487 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:58202003 (GRCh38)
14:58668722 (GRCh37)
Canonical SPDI:: NC_000014.9:58202003::G
Gene:: ACTR10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000014.9:g.58202003_58202004insG, NC_000014.8:g.58668721_58668722insG

Select item 14912572187.

rs1491257218 has merged into rs11460483 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:58202013 (GRCh38)
14:58668731 (GRCh37)
Canonical SPDI:: NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:58202002:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0533/267 (1000Genomes)
-=0.5/4 (KOREAN)
HGVS:: NC_000014.9:g.58202013_58202021del, NC_000014.9:g.58202017_58202021del, NC_000014.9:g.58202018_58202021del, NC_000014.9:g.58202019_58202021del, NC_000014.9:g.58202020_58202021del, NC_000014.9:g.58202021del, NC_000014.9:g.58202021dup, NC_000014.9:g.58202020_58202021dup, NC_000014.9:g.58202019_58202021dup, NC_000014.9:g.58202018_58202021dup, NC_000014.9:g.58202017_58202021dup, NC_000014.9:g.58202015_58202021dup, NC_000014.8:g.58668731_58668739del, NC_000014.8:g.58668735_58668739del, NC_000014.8:g.58668736_58668739del, NC_000014.8:g.58668737_58668739del, NC_000014.8:g.58668738_58668739del, NC_000014.8:g.58668739del, NC_000014.8:g.58668739dup, NC_000014.8:g.58668738_58668739dup, NC_000014.8:g.58668737_58668739dup, NC_000014.8:g.58668736_58668739dup, NC_000014.8:g.58668735_58668739dup, NC_000014.8:g.58668733_58668739dup

Select item 14911861538.

rs1491186153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:58202942 (GRCh38)
14:58669661 (GRCh37)
Canonical SPDI:: NC_000014.9:58202942:T:TT
Gene:: ACTR10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000014.9:g.58202943dup, NC_000014.8:g.58669661dup

Select item 14911608439.

rs1491160843 has merged into rs776284860 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 14:58199144 (GRCh38)
14:58665862 (GRCh37)
Canonical SPDI:: NC_000014.9:58199135:GGGGGGGGGGG:GGGGGGGG,NC_000014.9:58199135:GGGGGGGGGGG:GGGGGGGGG,NC_000014.9:58199135:GGGGGGGGGGG:GGGGGGGGGG,NC_000014.9:58199135:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000014.9:58199135:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000014.9:58199135:GGGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: ACTR10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
G=0.075/3 (GENOME_DK)
HGVS:: NC_000014.9:g.58199144_58199146del, NC_000014.9:g.58199145_58199146del, NC_000014.9:g.58199146del, NC_000014.9:g.58199146dup, NC_000014.9:g.58199145_58199146dup, NC_000014.9:g.58199144_58199146dup, NC_000014.8:g.58665862_58665864del, NC_000014.8:g.58665863_58665864del, NC_000014.8:g.58665864del, NC_000014.8:g.58665864dup, NC_000014.8:g.58665863_58665864dup, NC_000014.8:g.58665862_58665864dup

Select item 149108670710.

rs1491086707 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TATAT,TATATAT,TATATATAT [Show Flanks]
Chromosome:: 14:58221302 (GRCh38)
14:58688021 (GRCh37)
Canonical SPDI:: NC_000014.9:58221302::T,NC_000014.9:58221302::TATAT,NC_000014.9:58221302::TATATAT,NC_000014.9:58221302::TATATATAT
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
T=0.000058/7 (GnomAD)
HGVS:: NC_000014.9:g.58221302_58221303insT, NC_000014.9:g.58221302_58221303insTATAT, NC_000014.9:g.58221302_58221303insTATATAT, NC_000014.9:g.58221302_58221303insTATATATAT, NC_000014.8:g.58688020_58688021insT, NC_000014.8:g.58688020_58688021insTATAT, NC_000014.8:g.58688020_58688021insTATATAT, NC_000014.8:g.58688020_58688021insTATATATAT

Select item 149102854511.

rs1491028545 has merged into rs200887449 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:58210684 (GRCh38)
14:58677402 (GRCh37)
Canonical SPDI:: NC_000014.9:58210679:TTTTTTTTTTTTT:TTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58210679:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.19649/984 (1000Genomes)
T=0.47016/1812 (ALSPAC)
T=0.47896/1776 (TWINSUK)
HGVS:: NC_000014.9:g.58210684_58210692del, NC_000014.9:g.58210690_58210692del, NC_000014.9:g.58210691_58210692del, NC_000014.9:g.58210692del, NC_000014.9:g.58210692dup, NC_000014.9:g.58210691_58210692dup, NC_000014.9:g.58210690_58210692dup, NC_000014.9:g.58210684_58210692dup, NC_000014.9:g.58210683_58210692dup, NC_000014.9:g.58210692_58210693insTTTTTTTTTTTTTT, NC_000014.8:g.58677402_58677410del, NC_000014.8:g.58677408_58677410del, NC_000014.8:g.58677409_58677410del, NC_000014.8:g.58677410del, NC_000014.8:g.58677410dup, NC_000014.8:g.58677409_58677410dup, NC_000014.8:g.58677408_58677410dup, NC_000014.8:g.58677402_58677410dup, NC_000014.8:g.58677401_58677410dup, NC_000014.8:g.58677410_58677411insTTTTTTTTTTTTTT

Select item 149101505212.

rs1491015052 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:58232887 (GRCh38)
14:58699605 (GRCh37)
Canonical SPDI:: NC_000014.9:58232886:TG:
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.58232887_58232888del, NC_000014.8:g.58699605_58699606del

Select item 149096446713.

rs1490964467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 14:58205929 (GRCh38)
14:58672647 (GRCh37)
Canonical SPDI:: NC_000014.9:58205928:G:A,NC_000014.9:58205928:G:C
Gene:: ACTR10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58205929G>A, NC_000014.9:g.58205929G>C, NC_000014.8:g.58672647G>A, NC_000014.8:g.58672647G>C

Select item 149092591714.

rs1490925917 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:58222509 (GRCh38)
14:58689227 (GRCh37)
Canonical SPDI:: NC_000014.9:58222508:A:T
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58222509A>T, NC_000014.8:g.58689227A>T

Select item 149088333115.

rs1490883331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:58223570 (GRCh38)
14:58690288 (GRCh37)
Canonical SPDI:: NC_000014.9:58223569:C:A,NC_000014.9:58223569:C:G,NC_000014.9:58223569:C:T
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58223570C>A, NC_000014.9:g.58223570C>G, NC_000014.9:g.58223570C>T, NC_000014.8:g.58690288C>A, NC_000014.8:g.58690288C>G, NC_000014.8:g.58690288C>T

Select item 149087735016.

rs1490877350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:58205046 (GRCh38)
14:58671764 (GRCh37)
Canonical SPDI:: NC_000014.9:58205045:C:A,NC_000014.9:58205045:C:T
Gene:: ACTR10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.58205046C>A, NC_000014.9:g.58205046C>T, NC_000014.8:g.58671764C>A, NC_000014.8:g.58671764C>T

Select item 149080243117.

rs1490802431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:58229790 (GRCh38)
14:58696508 (GRCh37)
Canonical SPDI:: NC_000014.9:58229789:G:A
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000014.9:g.58229790G>A, NC_000014.8:g.58696508G>A

Select item 149069243818.

rs1490692438 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:58214205 (GRCh38)
14:58680923 (GRCh37)
Canonical SPDI:: NC_000014.9:58214200:CTCTCT:CTCT
Gene:: ACTR10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.58214201CT[2], NC_000014.8:g.58680919CT[2]

Select item 149065388619.

rs1490653886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:58205293 (GRCh38)
14:58672011 (GRCh37)
Canonical SPDI:: NC_000014.9:58205292:G:C
Gene:: ACTR10 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.58205293G>C, NC_000014.8:g.58672011G>C

Select item 149061013020.

rs1490610130 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 14:58198920 (GRCh38)
14:58665639 (GRCh37)
Canonical SPDI:: NC_000014.9:58198920:GG:GGGG
Gene:: ACTR10 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
GG=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.58198921_58198922dup, NC_000014.8:g.58665639_58665640dup

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