SNP Links for Gene (Select 5020) - SNP

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Select item 14907398431.

rs1490739843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3070165 (GRCh38)
20:3050811 (GRCh37)
Canonical SPDI:: NC_000020.11:3070164:A:G
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3070165A>G, NC_000020.10:g.3050811A>G

Select item 14896864832.

rs1489686483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:3067331 (GRCh38)
20:3047977 (GRCh37)
Canonical SPDI:: NC_000020.11:3067330:G:A,NC_000020.11:3067330:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3067331G>A, NC_000020.11:g.3067331G>T, NC_000020.10:g.3047977G>A, NC_000020.10:g.3047977G>T

Select item 14894778323.

rs1489477832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3070029 (GRCh38)
20:3050675 (GRCh37)
Canonical SPDI:: NC_000020.11:3070028:T:C
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.3070029T>C, NC_000020.10:g.3050675T>C

Select item 14894426194.

rs1489442619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3070925 (GRCh38)
20:3051571 (GRCh37)
Canonical SPDI:: NC_000020.11:3070924:A:G
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3070925A>G, NC_000020.10:g.3051571A>G

Select item 14889351915.

rs1488935191 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:3069130 (GRCh38)
20:3049776 (GRCh37)
Canonical SPDI:: NC_000020.11:3069124:GAGAGAG:GAGAG
Gene:: LOC101929098 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAGAG=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.3069126AG[2], NC_000020.10:g.3049772AG[2], XR_430278.4:n.388TC[2], XR_430278.3:n.383TC[2], XR_430278.2:n.367TC[2], XR_430278.1:n.323TC[2], XR_007067503.1:n.353TC[2]

Select item 14880253996.

rs1488025399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:3069079 (GRCh38)
20:3049725 (GRCh37)
Canonical SPDI:: NC_000020.11:3069078:G:C
Gene:: LOC101929098 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.3069079G>C, NC_000020.10:g.3049725G>C, XR_430278.4:n.439C>G, XR_430278.3:n.434C>G, XR_430278.2:n.418C>G, XR_430278.1:n.374C>G, XR_007067503.1:n.404C>G

Select item 14876243477.

rs1487624347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3070181 (GRCh38)
20:3050827 (GRCh37)
Canonical SPDI:: NC_000020.11:3070180:G:A
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.3070181G>A, NC_000020.10:g.3050827G>A

Select item 14875123878.

rs1487512387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3069206 (GRCh38)
20:3049852 (GRCh37)
Canonical SPDI:: NC_000020.11:3069205:T:C
Gene:: LOC101929098 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.3069206T>C, NC_000020.10:g.3049852T>C, XR_430278.4:n.312A>G, XR_430278.3:n.307A>G, XR_430278.2:n.291A>G, XR_430278.1:n.247A>G, XR_007067503.1:n.277A>G

Select item 14874380909.

rs1487438090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3071798 (GRCh38)
20:3052444 (GRCh37)
Canonical SPDI:: NC_000020.11:3071797:G:A
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.3071798G>A, NC_000020.10:g.3052444G>A

Select item 148613046710.

rs1486130467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:3072207 (GRCh38)
20:3052853 (GRCh37)
Canonical SPDI:: NC_000020.11:3072206:C:G
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000895/4 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000893/4 (Estonian)
HGVS:: NC_000020.11:g.3072207C>G, NC_000020.10:g.3052853C>G, XR_430278.4:n.93G>C, XR_430278.3:n.88G>C, XR_430278.2:n.72G>C, XR_430278.1:n.28G>C, NM_000915.4:c.251C>G, NM_000915.3:c.251C>G, NP_000906.1:p.Pro84Arg

Select item 148500766011.

rs1485007660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:3070937 (GRCh38)
20:3051583 (GRCh37)
Canonical SPDI:: NC_000020.11:3070936:G:C
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000020.11:g.3070937G>C, NC_000020.10:g.3051583G>C

Select item 148489624512.

rs1484896245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:3071954 (GRCh38)
20:3052600 (GRCh37)
Canonical SPDI:: NC_000020.11:3071953:G:T
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3071954G>T, NC_000020.10:g.3052600G>T

Select item 148484151913.

rs1484841519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:3066957 (GRCh38)
20:3047603 (GRCh37)
Canonical SPDI:: NC_000020.11:3066956:C:A,NC_000020.11:3066956:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.3066957C>A, NC_000020.11:g.3066957C>T, NC_000020.10:g.3047603C>A, NC_000020.10:g.3047603C>T

Select item 148477139114.

rs1484771391 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3070913 (GRCh38)
20:3051559 (GRCh37)
Canonical SPDI:: NC_000020.11:3070912:T:C
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.3070913T>C, NC_000020.10:g.3051559T>C

Select item 148417139815.

rs1484171398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3067034 (GRCh38)
20:3047680 (GRCh37)
Canonical SPDI:: NC_000020.11:3067033:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000053/14 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.3067034C>T, NC_000020.10:g.3047680C>T

Select item 148411934216.

rs1484119342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3066961 (GRCh38)
20:3047607 (GRCh37)
Canonical SPDI:: NC_000020.11:3066960:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000020.11:g.3066961A>G, NC_000020.10:g.3047607A>G

Select item 148410276617.

rs1484102766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:3072078 (GRCh38)
20:3052724 (GRCh37)
Canonical SPDI:: NC_000020.11:3072077:G:C
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000020.11:g.3072078G>C, NC_000020.10:g.3052724G>C, NM_000915.4:c.122G>C, NM_000915.3:c.122G>C, NP_000906.1:p.Cys41Ser

Select item 148229966618.

rs1482299666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:3072116 (GRCh38)
20:3052762 (GRCh37)
Canonical SPDI:: NC_000020.11:3072115:G:C
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3072116G>C, NC_000020.10:g.3052762G>C, NM_000915.4:c.160G>C, NM_000915.3:c.160G>C, NP_000906.1:p.Gly54Arg

Select item 148133038519.

rs1481330385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3069919 (GRCh38)
20:3050565 (GRCh37)
Canonical SPDI:: NC_000020.11:3069918:C:T
Gene:: OXT (Varview), LOC101929098 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000042/11 (TOPMED)
T=0.000043/6 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.3069919C>T, NC_000020.10:g.3050565C>T

Select item 148118285820.

rs1481182858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:3069284 (GRCh38)
20:3049930 (GRCh37)
Canonical SPDI:: NC_000020.11:3069283:G:A
Gene:: LOC101929098 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3069284G>A, NC_000020.10:g.3049930G>A, XR_430278.4:n.234C>T, XR_430278.3:n.229C>T, XR_430278.2:n.213C>T, XR_430278.1:n.169C>T, XR_007067503.1:n.199C>T

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