SNP Links for Gene (Select 117581) - SNP

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Select item 14915787411.

rs1491578741 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CCCCC [Show Flanks]
Chromosome:: 2:238870141 (GRCh38)
2:239778782 (GRCh37)
Canonical SPDI:: NC_000002.12:238870139:CCCC:C,NC_000002.12:238870139:CCCC:CC,NC_000002.12:238870139:CCCC:CCCCCC
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.00148/25 (TOMMO)
HGVS:: NC_000002.12:g.238870141_238870143del, NC_000002.12:g.238870142_238870143del, NC_000002.12:g.238870142_238870143dup, NC_000002.11:g.239778782_239778784del, NC_000002.11:g.239778783_239778784del, NC_000002.11:g.239778783_239778784dup, NG_032754.2:g.27110_27112del, NG_032754.2:g.27111_27112del, NG_032754.2:g.27111_27112dup, NW_021159987.1:g.97384_97386del, NW_021159987.1:g.97385_97386del, NW_021159987.1:g.97385_97386dup

Select item 14915657752.

rs1491565775 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:238871102 (GRCh38)
2:239779743 (GRCh37)
Canonical SPDI:: NC_000002.12:238871101:AA:
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.238871102_238871103del, NC_000002.11:g.239779743_239779744del, NG_032754.2:g.28071_28072del, NW_021159987.1:g.98345_98346del

Select item 14915483783.

rs1491548378 has merged into rs376708742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 2:238865702 (GRCh38)
2:239774343 (GRCh37)
Canonical SPDI:: NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:238865690:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.307/183 (NorthernSweden)
-=0.325/13 (GENOME_DK)
-=0.3391/1307 (ALSPAC)
-=0.3452/1280 (TWINSUK)
-=0.4888/2448 (1000Genomes)
HGVS:: NC_000002.12:g.238865702_238865704del, NC_000002.12:g.238865703_238865704del, NC_000002.12:g.238865704del, NC_000002.12:g.238865704dup, NC_000002.12:g.238865703_238865704dup, NC_000002.12:g.238865702_238865704dup, NC_000002.12:g.238865701_238865704dup, NC_000002.12:g.238865698_238865704dup, NC_000002.11:g.239774343_239774345del, NC_000002.11:g.239774344_239774345del, NC_000002.11:g.239774345del, NC_000002.11:g.239774345dup, NC_000002.11:g.239774344_239774345dup, NC_000002.11:g.239774343_239774345dup, NC_000002.11:g.239774342_239774345dup, NC_000002.11:g.239774339_239774345dup, NG_032754.2:g.22671_22673del, NG_032754.2:g.22672_22673del, NG_032754.2:g.22673del, NG_032754.2:g.22673dup, NG_032754.2:g.22672_22673dup, NG_032754.2:g.22671_22673dup, NG_032754.2:g.22670_22673dup, NG_032754.2:g.22667_22673dup, NW_021159987.1:g.92945_92947del, NW_021159987.1:g.92946_92947del, NW_021159987.1:g.92947del, NW_021159987.1:g.92947dup, NW_021159987.1:g.92946_92947dup, NW_021159987.1:g.92945_92947dup, NW_021159987.1:g.92944_92947dup, NW_021159987.1:g.92941_92947dup, XR_007069137.1:n.16652_16654del, XR_007069137.1:n.16653_16654del, XR_007069137.1:n.16654del, XR_007069137.1:n.16654dup, XR_007069137.1:n.16653_16654dup, XR_007069137.1:n.16652_16654dup, XR_007069137.1:n.16651_16654dup, XR_007069137.1:n.16648_16654dup

Select item 14915164974.

rs1491516497 has merged into rs143351834 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 2:238882064 (GRCh38)
2:239790705 (GRCh37)
Canonical SPDI:: NC_000002.12:238882054:TCTCTCTCTCTCT:TCTCTCTCT,NC_000002.12:238882054:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000002.12:238882054:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000002.12:238882054:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCTCT=0./0 (ALFA)
-=0.00003/8 (TOPMED)
TC=0.055556/12 (Vietnamese)
TC=0.091257/167 (Korea1K)
TC=0.099469/498 (1000Genomes)
TC=0.138277/138 (GoNL)
TC=0.14/84 (NorthernSweden)
HGVS:: NC_000002.12:g.238882056CT[4], NC_000002.12:g.238882056CT[5], NC_000002.12:g.238882056CT[7], NC_000002.12:g.238882056CT[8], NC_000002.11:g.239790697CT[4], NC_000002.11:g.239790697CT[5], NC_000002.11:g.239790697CT[7], NC_000002.11:g.239790697CT[8], NG_032754.2:g.39025CT[4], NG_032754.2:g.39025CT[5], NG_032754.2:g.39025CT[7], NG_032754.2:g.39025CT[8], NW_021159987.1:g.109299CT[4], NW_021159987.1:g.109299CT[5], NW_021159987.1:g.109299CT[7], NW_021159987.1:g.109299CT[8]

Select item 14914843805.

rs1491484380 has merged into rs373530347 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC [Show Flanks]
Chromosome:: 2:238870635 (GRCh38)
2:239779276 (GRCh37)
Canonical SPDI:: NC_000002.12:238870630:CCCCCCC:CCCC,NC_000002.12:238870630:CCCCCCC:CCCCC,NC_000002.12:238870630:CCCCCCC:CCCCCC,NC_000002.12:238870630:CCCCCCC:CCCCCCCC
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
-=0.01941/240 (TOMMO)
HGVS:: NC_000002.12:g.238870635_238870637del, NC_000002.12:g.238870636_238870637del, NC_000002.12:g.238870637del, NC_000002.12:g.238870637dup, NC_000002.11:g.239779276_239779278del, NC_000002.11:g.239779277_239779278del, NC_000002.11:g.239779278del, NC_000002.11:g.239779278dup, NG_032754.2:g.27604_27606del, NG_032754.2:g.27605_27606del, NG_032754.2:g.27606del, NG_032754.2:g.27606dup, NW_021159987.1:g.97878_97880del, NW_021159987.1:g.97879_97880del, NW_021159987.1:g.97880del, NW_021159987.1:g.97880dup

Select item 14914751636.

rs1491475163 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCGTGTG>-,TGCGTGTGTGCGTGTG [Show Flanks]
Chromosome:: 2:238905924 (GRCh38)
2:2 (GRCh37)
Canonical SPDI:: NC_000002.12:238905920:GTGTGCGTGTG:GTG,NC_000002.12:238905920:GTGTGCGTGTG:GTGTGCGTGTGTGCGTGTG
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGCGTGTGTGCGTGTG=0./0 (ALFA)
HGVS:: NC_000002.12:g.238905924_238905931del, NC_000002.12:g.238905924_238905931dup, NG_032754.2:g.62505_62512del, NG_032754.2:g.62505_62512dup, NW_021159987.1:g.132953_132960del, NW_021159987.1:g.132953_132960dup

Select item 14914499107.

rs1491449910 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:238903022 (GRCh38)
2:1 (GRCh37)
Canonical SPDI:: NC_000002.12:238903019:TGTG:TG
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0.00042/5 (ALFA)
-=0.00019/1 (GnomAD)
HGVS:: NC_000002.12:g.238903020TG[1], NG_032754.2:g.59989TG[1]

Select item 14914078998.

rs1491407899 has merged into rs1273512193 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 2:238870124 (GRCh38)
2:239778765 (GRCh37)
Canonical SPDI:: NC_000002.12:238870119:CCCCCC:CCCC,NC_000002.12:238870119:CCCCCC:CCCCC,NC_000002.12:238870119:CCCCCC:CCCCCCC,NC_000002.12:238870119:CCCCCC:CCCCCCCC
Gene:: TWIST2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.238870124_238870125del, NC_000002.12:g.238870125del, NC_000002.12:g.238870125dup, NC_000002.12:g.238870124_238870125dup, NC_000002.11:g.239778765_239778766del, NC_000002.11:g.239778766del, NC_000002.11:g.239778766dup, NC_000002.11:g.239778765_239778766dup, NG_032754.2:g.27093_27094del, NG_032754.2:g.27094del, NG_032754.2:g.27094dup, NG_032754.2:g.27093_27094dup, NW_021159987.1:g.97367_97368del, NW_021159987.1:g.97368del, NW_021159987.1:g.97368dup, NW_021159987.1:g.97367_97368dup

Select item 14913946049.

rs1491394604 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:238902978 (GRCh38)
2:1 (GRCh37)
Canonical SPDI:: NC_000002.12:238902975:TGTG:TG
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGTG=0.00236/28 (ALFA)
-=0.00163/6 (GnomAD)
HGVS:: NC_000002.12:g.238902976TG[1], NG_032754.2:g.59945TG[1]

Select item 149138835510.

rs1491388355 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:238867413 (GRCh38)
2:239776054 (GRCh37)
Canonical SPDI:: NC_000002.12:238867411:CTC:C
Gene:: TWIST2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003372/40 (ALFA)
-=0.00092/15 (TOMMO)
-=0.001092/2 (Korea1K)
-=0.001667/1 (NorthernSweden)
-=0.005628/751 (GnomAD)
HGVS:: NC_000002.12:g.238867413_238867414del, NC_000002.11:g.239776054_239776055del, NG_032754.2:g.24382_24383del, NW_021159987.1:g.94656_94657del

Select item 149138680611.

rs1491386806 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:238905920 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:238905919:GG:
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000088/9 (GnomAD)
HGVS:: NC_000002.12:g.238905920_238905921del, NG_032754.2:g.62501_62502del, NW_021159987.1:g.132949_132950del

Select item 149134728512.

rs1491347285 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,ACA [Show Flanks]
Chromosome:: 2:238870140 (GRCh38)
2:239778782 (GRCh37)
Canonical SPDI:: NC_000002.12:238870140::A,NC_000002.12:238870140::AA,NC_000002.12:238870140::ACA
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000002.12:g.238870140_238870141insA, NC_000002.12:g.238870140_238870141insAA, NC_000002.12:g.238870140_238870141insACA, NC_000002.11:g.239778781_239778782insA, NC_000002.11:g.239778781_239778782insAA, NC_000002.11:g.239778781_239778782insACA, NG_032754.2:g.27109_27110insA, NG_032754.2:g.27109_27110insAA, NG_032754.2:g.27109_27110insACA, NW_021159987.1:g.97383_97384insA, NW_021159987.1:g.97383_97384insAA, NW_021159987.1:g.97383_97384insACA

Select item 149133078013.

rs1491330780 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:238902527 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:238902527:T:TT
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000002.12:g.238902528dup, NG_032754.2:g.59497dup, NW_021159987.1:g.129771dup

Select item 149132110014.

rs1491321100 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 2:238853447 (GRCh38)
2:239762089 (GRCh37)
Canonical SPDI:: NC_000002.12:238853447:GG:GGGG
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0.00017/2 (ALFA)
GG=0.00032/18 (GnomAD)
HGVS:: NC_000002.12:g.238853448_238853449dup, NC_000002.11:g.239762089_239762090dup, NG_032754.2:g.10417_10418dup, NW_021159987.1:g.80691_80692dup, XR_007069137.1:n.4398_4399dup

Select item 149131766215.

rs1491317662 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G,GG [Show Flanks]
Chromosome:: 2:238902976 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:238902976:G:GG,NC_000002.12:238902976:G:GGG
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
GG=0.00006/1 (TOMMO)
HGVS:: NC_000002.12:g.238902977dup, NC_000002.12:g.238902977_238902978insGG, NG_032754.2:g.59946dup, NG_032754.2:g.59946_59947insGG, NW_021159987.1:g.130311dup, NW_021159987.1:g.130311_130312insGG

Select item 149130926616.

rs1491309266 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:238903020 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:238903020:G:GG
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.238903021dup, NG_032754.2:g.59990dup, NW_021159987.1:g.130373dup

Select item 149129821017.

rs1491298210 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:238870120 (GRCh38)
2:239778762 (GRCh37)
Canonical SPDI:: NC_000002.12:238870120::A
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.238870120_238870121insA, NC_000002.11:g.239778761_239778762insA, NG_032754.2:g.27089_27090insA, NW_021159987.1:g.97363_97364insA

Select item 149129721618.

rs1491297216 [Homo sapiens]

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

Select item 149126850519.

rs1491268505 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:238904089 (GRCh38)
2:-1 (GRCh37)
Canonical SPDI:: NC_000002.12:238904089:G:GG
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00093/11 (ALFA)
HGVS:: NC_000002.12:g.238904090dup, NG_032754.2:g.60671dup, NW_021159987.1:g.131072dup

Select item 149123803120.

rs1491238031 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:238853447 (GRCh38)
2:239762088 (GRCh37)
Canonical SPDI:: NC_000002.12:238853446:TG:
Gene:: TWIST2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0344/408 (ALFA)
-=0.00032/19 (GnomAD)
HGVS:: NC_000002.12:g.238853447_238853448del, NC_000002.11:g.239762088_239762089del, NG_032754.2:g.10416_10417del, NW_021159987.1:g.80690_80691del, XR_007069137.1:n.4397_4398del

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