SNP Links for Gene (Select 29802) - SNP

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Select item 14914861131.

rs1491486113 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 22:23754747 (GRCh38)
22:24096935 (GRCh37)
Canonical SPDI:: NC_000022.11:23754747:G:GTG
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0.00027/5 (ALFA)
GT=0.00035/28 (GnomAD)
HGVS:: NC_000022.11:g.23754748_23754749insTG, NC_000022.10:g.24096935_24096936insTG

Select item 14912784032.

rs1491278403 has merged into rs200112748 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGC>-,GCGC,GCGCGCGC,GCGCGCGCACACGCGCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 22:23754748 (GRCh38)
22:24096935 (GRCh37)
Canonical SPDI:: NC_000022.11:23754746:CGCGCGC:C,NC_000022.11:23754746:CGCGCGC:CGCGC,NC_000022.11:23754746:CGCGCGC:CGCGCGCGC,NC_000022.11:23754746:CGCGCGC:CGCGCGCGCACACGCGCGCGC,NC_000022.11:23754746:CGCGCGC:CGCGCGCGCGC,NC_000022.11:23754746:CGCGCGC:CGCGCGCGCGCGC,NC_000022.11:23754746:CGCGCGC:CGCGCGCGCGCGCGC,NC_000022.11:23754746:CGCGCGC:CGCGCGCGCGCGCGCGC,NC_000022.11:23754746:CGCGCGC:CGCGCGCGCGCGCGCGCGC
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGCGCACACGCGCGCGC=0./0 (ALFA)
CGCG=0.125/5 (GENOME_DK)
HGVS:: NC_000022.11:g.23754748_23754753del, NC_000022.11:g.23754748GC[2], NC_000022.11:g.23754748GC[4], NC_000022.11:g.23754747_23754753CG[4]CA[2]CG[4]C[1], NC_000022.11:g.23754748GC[5], NC_000022.11:g.23754748GC[6], NC_000022.11:g.23754748GC[7], NC_000022.11:g.23754748GC[8], NC_000022.11:g.23754748GC[9], NC_000022.10:g.24096935_24096940del, NC_000022.10:g.24096935GC[2], NC_000022.10:g.24096935GC[4], NC_000022.10:g.24096934_24096940CG[4]CA[2]CG[4]C[1], NC_000022.10:g.24096935GC[5], NC_000022.10:g.24096935GC[6], NC_000022.10:g.24096935GC[7], NC_000022.10:g.24096935GC[8], NC_000022.10:g.24096935GC[9]

Select item 14911814653.

rs1491181465 has merged into rs1555921394 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA [Show Flanks]
Chromosome:: 22:23754763 (GRCh38)
22:24096950 (GRCh37)
Canonical SPDI:: NC_000022.11:23754752:CACACACACACACACACA:CACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000022.11:23754752:CACACACACACACACACA:CACACACACACACACACACACACACACACACACA
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
HGVS:: NC_000022.11:g.23754753CA[5], NC_000022.11:g.23754753CA[7], NC_000022.11:g.23754753CA[8], NC_000022.11:g.23754753CA[10], NC_000022.11:g.23754753CA[11], NC_000022.11:g.23754753CA[12], NC_000022.11:g.23754753CA[13], NC_000022.11:g.23754753CA[14], NC_000022.11:g.23754753CA[15], NC_000022.11:g.23754753CA[16], NC_000022.11:g.23754753CA[17], NC_000022.10:g.24096940CA[5], NC_000022.10:g.24096940CA[7], NC_000022.10:g.24096940CA[8], NC_000022.10:g.24096940CA[10], NC_000022.10:g.24096940CA[11], NC_000022.10:g.24096940CA[12], NC_000022.10:g.24096940CA[13], NC_000022.10:g.24096940CA[14], NC_000022.10:g.24096940CA[15], NC_000022.10:g.24096940CA[16], NC_000022.10:g.24096940CA[17]

Select item 14910980234.

rs1491098023 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:23754771 (GRCh38)
22:24096958 (GRCh37)
Canonical SPDI:: NC_000022.11:23754769:ATA:A
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.033991/555 (ALFA)
-=0.072227/1211 (TOMMO)
-=0.116266/213 (Korea1K)
-=0.132105/846 (1000Genomes)
-=0.15/90 (NorthernSweden)
-=0.154611/20677 (GnomAD)
HGVS:: NC_000022.11:g.23754771_23754772del, NC_000022.10:g.24096958_24096959del

Select item 14897802035.

rs1489780203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:23753566 (GRCh38)
22:24095753 (GRCh37)
Canonical SPDI:: NC_000022.11:23753565:C:A
Gene:: VPREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23753566C>A, NC_000022.10:g.24095753C>A

Select item 14896138796.

rs1489613879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23753181 (GRCh38)
22:24095368 (GRCh37)
Canonical SPDI:: NC_000022.11:23753180:C:T
Gene:: VPREB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.23753181C>T, NC_000022.10:g.24095368C>T, NM_013378.3:c.67G>A, NM_013378.2:c.67G>A, NP_037510.1:p.Ala23Thr

Select item 14895823747.

rs1489582374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:23755880 (GRCh38)
22:24098067 (GRCh37)
Canonical SPDI:: NC_000022.11:23755879:G:C
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23755880G>C, NC_000022.10:g.24098067G>C

Select item 14894047358.

rs1489404735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:23753113 (GRCh38)
22:24095300 (GRCh37)
Canonical SPDI:: NC_000022.11:23753112:C:G
Gene:: VPREB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23753113C>G, NC_000022.10:g.24095300C>G, NM_013378.3:c.135G>C, NM_013378.2:c.135G>C, NP_037510.1:p.Gln45His

Select item 14893837929.

rs1489383792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:23752938 (GRCh38)
22:24095125 (GRCh37)
Canonical SPDI:: NC_000022.11:23752937:G:C
Gene:: ZNF70 (Varview), VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23752938G>C, NC_000022.10:g.24095125G>C, NM_013378.3:c.310C>G, NM_013378.2:c.310C>G, NP_037510.1:p.Pro104Ala

Select item 148771069410.

rs1487710694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23753245 (GRCh38)
22:24095432 (GRCh37)
Canonical SPDI:: NC_000022.11:23753244:C:T
Gene:: VPREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000022.11:g.23753245C>T, NC_000022.10:g.24095432C>T

Select item 148767779811.

rs1487677798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23753468 (GRCh38)
22:24095655 (GRCh37)
Canonical SPDI:: NC_000022.11:23753467:G:A
Gene:: VPREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23753468G>A, NC_000022.10:g.24095655G>A

Select item 148740184412.

rs1487401844 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCA>- [Show Flanks]
Chromosome:: 22:23754713 (GRCh38)
22:24096900 (GRCh37)
Canonical SPDI:: NC_000022.11:23754710:CAAGCA:CA
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000066/1 (ALFA)
-=0.000107/15 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.23754713_23754716del, NC_000022.10:g.24096900_24096903del

Select item 148734117213.

rs1487341172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:23756280 (GRCh38)
22:24098467 (GRCh37)
Canonical SPDI:: NC_000022.11:23756279:T:C
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23756280T>C, NC_000022.10:g.24098467T>C

Select item 148588161214.

rs1485881612 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACACACGCACACA>- [Show Flanks]
Chromosome:: 22:23754771 (GRCh38)
22:24096958 (GRCh37)
Canonical SPDI:: NC_000022.11:23754764:CACACATACACACGCACACA:CACACA
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.23754771_23754784del, NC_000022.10:g.24096958_24096971del

Select item 148576490615.

rs1485764906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23753901 (GRCh38)
22:24096088 (GRCh37)
Canonical SPDI:: NC_000022.11:23753900:C:T
Gene:: VPREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.23753901C>T, NC_000022.10:g.24096088C>T

Select item 148571267416.

rs1485712674 [Homo sapiens]

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

Select item 148470705717.

rs1484707057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23755101 (GRCh38)
22:24097288 (GRCh37)
Canonical SPDI:: NC_000022.11:23755100:G:A
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.23755101G>A, NC_000022.10:g.24097288G>A

Select item 148277966618.

rs1482779666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23755031 (GRCh38)
22:24097218 (GRCh37)
Canonical SPDI:: NC_000022.11:23755030:G:A
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.23755031G>A, NC_000022.10:g.24097218G>A

Select item 148239591119.

rs1482395911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:23753828 (GRCh38)
22:24096015 (GRCh37)
Canonical SPDI:: NC_000022.11:23753827:G:A
Gene:: VPREB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23753828G>A, NC_000022.10:g.24096015G>A

Select item 148217900220.

rs1482179002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:23756071 (GRCh38)
22:24098258 (GRCh37)
Canonical SPDI:: NC_000022.11:23756070:C:T
Gene:: VPREB3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.23756071C>T, NC_000022.10:g.24098258C>T

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