SNP Links for Gene (Select 84717) - SNP

Links from Gene

Items: 1 to 20 of 10282

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Select item 14915668671.

rs1491566867 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:4493228 (GRCh38)
19:4493225 (GRCh37)
Canonical SPDI:: NC_000019.10:4493222:GTGTGTG:GTGTG
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTG=0./0 (ALFA)
-=0.000039/5 (GnomAD)
HGVS:: NC_000019.10:g.4493224TG[2], NC_000019.9:g.4493221TG[2]

Select item 14915571242.

rs1491557124 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:4490808 (GRCh38)
19:4490806 (GRCh37)
Canonical SPDI:: NC_000019.10:4490808::C
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00016/2 (GnomAD)
HGVS:: NC_000019.10:g.4490808_4490809insC, NC_000019.9:g.4490805_4490806insC

Select item 14915547083.

rs1491554708 has merged into rs34622619 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:4496882 (GRCh38)
19:4496879 (GRCh37)
Canonical SPDI:: NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4496869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
T=0.4515/2261 (1000Genomes)
HGVS:: NC_000019.10:g.4496882_4496885del, NC_000019.10:g.4496883_4496885del, NC_000019.10:g.4496884_4496885del, NC_000019.10:g.4496885del, NC_000019.10:g.4496885dup, NC_000019.10:g.4496884_4496885dup, NC_000019.10:g.4496883_4496885dup, NC_000019.10:g.4496882_4496885dup, NC_000019.10:g.4496876_4496885dup, NC_000019.9:g.4496879_4496882del, NC_000019.9:g.4496880_4496882del, NC_000019.9:g.4496881_4496882del, NC_000019.9:g.4496882del, NC_000019.9:g.4496882dup, NC_000019.9:g.4496881_4496882dup, NC_000019.9:g.4496880_4496882dup, NC_000019.9:g.4496879_4496882dup, NC_000019.9:g.4496873_4496882dup

Select item 14914893104.

rs1491489310 has merged into rs1375766149 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG [Show Flanks]
Chromosome:: 19:4493166 (GRCh38)
19:4493163 (GRCh37)
Canonical SPDI:: NC_000019.10:4493163:TGTGTGTG:TG,NC_000019.10:4493163:TGTGTGTG:TGTG,NC_000019.10:4493163:TGTGTGTG:TGTGTG
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.01694/31 (Korea1K)
-=0.031228/520 (TOMMO)
HGVS:: NC_000019.10:g.4493164TG[1], NC_000019.10:g.4493164TG[2], NC_000019.10:g.4493164TG[3], NC_000019.9:g.4493161TG[1], NC_000019.9:g.4493161TG[2], NC_000019.9:g.4493161TG[3]

Select item 14914696755.

rs1491469675 has merged into rs750445922 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 19:4492231 (GRCh38)
19:4492228 (GRCh37)
Canonical SPDI:: NC_000019.10:4492223:TGTGTGTGTGTGT:TGTGTGT,NC_000019.10:4492223:TGTGTGTGTGTGT:TGTGTGTGT,NC_000019.10:4492223:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000019.10:4492223:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000019.10:4492223:TGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
-=0.00052/2 (ALSPAC)
-=0.00163/27 (TOMMO)
-=0.00437/8 (Korea1K)
HGVS:: NC_000019.10:g.4492225GT[3], NC_000019.10:g.4492225GT[4], NC_000019.10:g.4492225GT[5], NC_000019.10:g.4492225GT[7], NC_000019.10:g.4492225GT[8], NC_000019.9:g.4492222GT[3], NC_000019.9:g.4492222GT[4], NC_000019.9:g.4492222GT[5], NC_000019.9:g.4492222GT[7], NC_000019.9:g.4492222GT[8]

Select item 14914577936.

rs1491457793 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:4492808 (GRCh38)
19:4492805 (GRCh37)
Canonical SPDI:: NC_000019.10:4492802:TGTGTGT:TGTGT
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.000016/2 (GnomAD)
-=0.00005/1 (TOMMO)
HGVS:: NC_000019.10:g.4492804GT[2], NC_000019.9:g.4492801GT[2]

Select item 14914539997.

rs1491453999 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 19:4472451 (GRCh38)
19:4472449 (GRCh37)
Canonical SPDI:: NC_000019.10:4472451:G:GCG
Gene:: HDGFL2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000019.10:g.4472452_4472453insCG, NC_000019.9:g.4472449_4472450insCG

Select item 14914305198.

rs1491430519 [Homo sapiens]

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

Select item 14914200399.

rs1491420039 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:4476211 (GRCh38)
19:4476208 (GRCh37)
Canonical SPDI:: NC_000019.10:4476210:TG:
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.006238/74 (ALFA)
-=0.000296/30 (GnomAD)
-=0.001531/43 (TOMMO)
HGVS:: NC_000019.10:g.4476211_4476212del, NC_000019.9:g.4476208_4476209del

Select item 149141038710.

rs1491410387 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:4479895 (GRCh38)
19:4479892 (GRCh37)
Canonical SPDI:: NC_000019.10:4479892:GAGA:GA
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGA=0./0 (ALFA)
HGVS:: NC_000019.10:g.4479893GA[1], NC_000019.9:g.4479890GA[1]

Select item 149135765611.

rs1491357656 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTGTGTTGTGTTATCT [Show Flanks]
Chromosome:: 19:4492866 (GRCh38)
19:4492864 (GRCh37)
Canonical SPDI:: NC_000019.10:4492866:T:TCT,NC_000019.10:4492866:T:TCTGTGTTGTGTTATCT
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.4492867_4492868insCT, NC_000019.10:g.4492867_4492868insCTGTGTTGTGTTATCT, NC_000019.9:g.4492864_4492865insCT, NC_000019.9:g.4492864_4492865insCTGTGTTGTGTTATCT

Select item 149133686412.

rs1491336864 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:4492848 (GRCh38)
19:4492845 (GRCh37)
Canonical SPDI:: NC_000019.10:4492839:GTGTGTGTGT:GTGTGTGT
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGT=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.4492840GT[4], NC_000019.9:g.4492837GT[4]

Select item 149133270113.

rs1491332701 [Homo sapiens]

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

Select item 149132991514.

rs1491329915 has merged into rs34565005 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:4490817 (GRCh38)
19:4490814 (GRCh37)
Canonical SPDI:: NC_000019.10:4490807:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:4490807:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:4490807:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:4490807:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4490807:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.28827/1111 (ALSPAC)
T=0.30232/1121 (TWINSUK)
T=0.325/13 (GENOME_DK)
T=0.36542/1830 (1000Genomes)
-=0.4022/6728 (TOMMO)
-=0.42467/778 (Korea1K)
HGVS:: NC_000019.10:g.4490817_4490819del, NC_000019.10:g.4490818_4490819del, NC_000019.10:g.4490819del, NC_000019.10:g.4490819dup, NC_000019.10:g.4490818_4490819dup, NC_000019.9:g.4490814_4490816del, NC_000019.9:g.4490815_4490816del, NC_000019.9:g.4490816del, NC_000019.9:g.4490816dup, NC_000019.9:g.4490815_4490816dup

Select item 149132726215.

rs1491327262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:4476211 (GRCh38)
19:4476209 (GRCh37)
Canonical SPDI:: NC_000019.10:4476211:G:GG
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4476212dup, NC_000019.9:g.4476209dup

Select item 149130419516.

rs1491304195 has merged into rs1214725719 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 19:4492871 (GRCh38)
19:4492868 (GRCh37)
Canonical SPDI:: NC_000019.10:4492865:GTGTGTGTG:GTGTG,NC_000019.10:4492865:GTGTGTGTG:GTGTGTG,NC_000019.10:4492865:GTGTGTGTG:GTGTGTGTGTG
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTG=0./0 (ALFA)
HGVS:: NC_000019.10:g.4492867TG[2], NC_000019.10:g.4492867TG[3], NC_000019.10:g.4492867TG[5], NC_000019.9:g.4492864TG[2], NC_000019.9:g.4492864TG[3], NC_000019.9:g.4492864TG[5]

Select item 149130101017.

rs1491301010 [Homo sapiens]

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

Select item 149129006918.

rs1491290069 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:4492768 (GRCh38)
19:4492766 (GRCh37)
Canonical SPDI:: NC_000019.10:4492768:G:GG
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000019.10:g.4492769dup, NC_000019.9:g.4492766dup

Select item 149123183019.

rs1491231830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:4492821 (GRCh38)
19:4492819 (GRCh37)
Canonical SPDI:: NC_000019.10:4492821:G:GG
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.4492822dup, NC_000019.9:g.4492819dup

Select item 149114473020.

rs1491144730 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGTATGTCTGGTGT [Show Flanks]
Chromosome:: 19:4492802 (GRCh38)
19:4492800 (GRCh37)
Canonical SPDI:: NC_000019.10:4492802:T:TTGTATGTCTGGTGT
Gene:: HDGFL2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.4492803_4492804insTGTATGTCTGGTGT, NC_000019.9:g.4492800_4492801insTGTATGTCTGGTGT

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