SNP Links for Gene (Select 128506) - SNP

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Items: 1 to 20 of 2868

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Select item 14906883921.

rs1490688392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46543079 (GRCh38)
20:45171718 (GRCh37)
Canonical SPDI:: NC_000020.11:46543078:G:A
Gene:: OCSTAMP (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_000020.11:g.46543079G>A, NC_000020.10:g.45171718G>A

Select item 14906106412.

rs1490610641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46541293 (GRCh38)
20:45169932 (GRCh37)
Canonical SPDI:: NC_000020.11:46541292:C:T
Gene:: OCSTAMP (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.46541293C>T, NC_000020.10:g.45169932C>T, NM_080721.3:c.1682G>A, NM_080721.2:c.1682G>A, NP_542452.1:p.Gly561Glu

Select item 14905084673.

rs1490508467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:46549497 (GRCh38)
20:45178136 (GRCh37)
Canonical SPDI:: NC_000020.11:46549496:G:A,NC_000020.11:46549496:G:T
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.46549497G>A, NC_000020.11:g.46549497G>T, NC_000020.10:g.45178136G>A, NC_000020.10:g.45178136G>T

Select item 14904927594.

rs1490492759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:46548339 (GRCh38)
20:45176978 (GRCh37)
Canonical SPDI:: NC_000020.11:46548338:A:G
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46548339A>G, NC_000020.10:g.45176978A>G

Select item 14902593765.

rs1490259376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:46543065 (GRCh38)
20:45171704 (GRCh37)
Canonical SPDI:: NC_000020.11:46543064:G:C
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46543065G>C, NC_000020.10:g.45171704G>C

Select item 14901259436.

rs1490125943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:46541834 (GRCh38)
20:45170473 (GRCh37)
Canonical SPDI:: NC_000020.11:46541833:C:T
Gene:: OCSTAMP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.46541834C>T, NC_000020.10:g.45170473C>T, NM_080721.3:c.1141G>A, NM_080721.2:c.1141G>A, NP_542452.1:p.Glu381Lys

Select item 14900086977.

rs1490008697 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46549001 (GRCh38)
20:45177640 (GRCh37)
Canonical SPDI:: NC_000020.11:46549000:G:A
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000020.11:g.46549001G>A, NC_000020.10:g.45177640G>A

Select item 14898955458.

rs1489895545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:46547969 (GRCh38)
20:45176608 (GRCh37)
Canonical SPDI:: NC_000020.11:46547968:G:A,NC_000020.11:46547968:G:T
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.46547969G>A, NC_000020.11:g.46547969G>T, NC_000020.10:g.45176608G>A, NC_000020.10:g.45176608G>T

Select item 14898055629.

rs1489805562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:46544972 (GRCh38)
20:45173611 (GRCh37)
Canonical SPDI:: NC_000020.11:46544971:A:G
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46544972A>G, NC_000020.10:g.45173611A>G

Select item 148896796110.

rs1488967961 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:46551444 (GRCh38)
20:45180083 (GRCh37)
Canonical SPDI:: NC_000020.11:46551443:A:G
Gene:: OCSTAMP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.46551444A>G, NC_000020.10:g.45180083A>G

Select item 148854631811.

rs1488546318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:46548876 (GRCh38)
20:45177515 (GRCh37)
Canonical SPDI:: NC_000020.11:46548875:A:G
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.46548876A>G, NC_000020.10:g.45177515A>G

Select item 148851042712.

rs1488510427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:46540973 (GRCh38)
20:45169612 (GRCh37)
Canonical SPDI:: NC_000020.11:46540972:T:C
Gene:: OCSTAMP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.46540973T>C, NC_000020.10:g.45169612T>C, NM_080721.3:c.*301A>G

Select item 148824931113.

rs1488249311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:46542732 (GRCh38)
20:45171371 (GRCh37)
Canonical SPDI:: NC_000020.11:46542731:A:G
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.46542732A>G, NC_000020.10:g.45171371A>G

Select item 148803192214.

rs1488031922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:46546842 (GRCh38)
20:45175481 (GRCh37)
Canonical SPDI:: NC_000020.11:46546841:G:A
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.46546842G>A, NC_000020.10:g.45175481G>A

Select item 148794661915.

rs1487946619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:46551070 (GRCh38)
20:45179709 (GRCh37)
Canonical SPDI:: NC_000020.11:46551069:T:A
Gene:: OCSTAMP (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.46551070T>A, NC_000020.10:g.45179709T>A

Select item 148764792316.

rs1487647923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:46546747 (GRCh38)
20:45175386 (GRCh37)
Canonical SPDI:: NC_000020.11:46546746:T:C
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.46546747T>C, NC_000020.10:g.45175386T>C

Select item 148757285517.

rs1487572855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:46547764 (GRCh38)
20:45176403 (GRCh37)
Canonical SPDI:: NC_000020.11:46547763:C:A,NC_000020.11:46547763:C:G
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.46547764C>A, NC_000020.11:g.46547764C>G, NC_000020.10:g.45176403C>A, NC_000020.10:g.45176403C>G

Select item 148730964518.

rs1487309645 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCAGCAGCTGG>- [Show Flanks]
Chromosome:: 20:46546225 (GRCh38)
20:45174864 (GRCh37)
Canonical SPDI:: NC_000020.11:46546218:AGCTGGGTCAGCAGCTGG:AGCTGG
Gene:: OCSTAMP (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGCTGG=0./0 (ALFA)
-=0.000013/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000106/2 (TOMMO)
HGVS:: NC_000020.11:g.46546225_46546236del, NC_000020.10:g.45174864_45174875del, NM_080721.3:c.144_155del, NM_080721.2:c.144_155del, NP_542452.1:p.Thr50_Leu53del

Select item 148725397319.

rs1487253973 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTC>- [Show Flanks]
Chromosome:: 20:46543172 (GRCh38)
20:45171811 (GRCh37)
Canonical SPDI:: NC_000020.11:46543162:CCTTCCTTCCTTC:CCTTCCTTC
Gene:: OCSTAMP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTTCCTTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000020.11:g.46543164CTTC[2], NC_000020.10:g.45171803CTTC[2]

Select item 148719851020.

rs1487198510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:46545464 (GRCh38)
20:45174103 (GRCh37)
Canonical SPDI:: NC_000020.11:46545463:C:A
Gene:: OCSTAMP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.46545464C>A, NC_000020.10:g.45174103C>A, NM_080721.3:c.910G>T, NM_080721.2:c.910G>T, NP_542452.1:p.Gly304Trp

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