SNP Links for Gene (Select 729451) - SNP

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:54685091 (GRCh38)
14:55151809 (GRCh37)
Canonical SPDI:: NC_000014.9:54685090:C:G
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.54685091C>G, NC_000014.8:g.55151809C>G, XR_943887.2:n.1016G>C, XR_943887.1:n.1016G>C

Select item 14903738626.

rs1490373862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:54686705 (GRCh38)
14:55153423 (GRCh37)
Canonical SPDI:: NC_000014.9:54686704:G:C
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000014.9:g.54686705G>C, NC_000014.8:g.55153423G>C

Select item 14903569707.

rs1490356970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:54685671 (GRCh38)
14:55152389 (GRCh37)
Canonical SPDI:: NC_000014.9:54685670:C:A,NC_000014.9:54685670:C:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.54685671C>A, NC_000014.9:g.54685671C>T, NC_000014.8:g.55152389C>A, NC_000014.8:g.55152389C>T, XR_943887.2:n.436G>T, XR_943887.2:n.436G>A, XR_943887.1:n.436G>T, XR_943887.1:n.436G>A

Select item 14903048238.

rs1490304823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:54686076 (GRCh38)
14:55152794 (GRCh37)
Canonical SPDI:: NC_000014.9:54686075:G:A,NC_000014.9:54686075:G:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000043/6 (GnomAD)
HGVS:: NC_000014.9:g.54686076G>A, NC_000014.9:g.54686076G>T, NC_000014.8:g.55152794G>A, NC_000014.8:g.55152794G>T

Select item 14898147189.

rs1489814718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 14:54684623 (GRCh38)
14:55151341 (GRCh37)
Canonical SPDI:: NC_000014.9:54684622:C:A,NC_000014.9:54684622:C:G,NC_000014.9:54684622:C:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.00069/2 (KOREAN)
HGVS:: NC_000014.9:g.54684623C>A, NC_000014.9:g.54684623C>G, NC_000014.9:g.54684623C>T, NC_000014.8:g.55151341C>A, NC_000014.8:g.55151341C>G, NC_000014.8:g.55151341C>T, XR_429363.5:n.789G>T, XR_429363.5:n.789G>C, XR_429363.5:n.789G>A, XR_429363.4:n.1125G>T, XR_429363.4:n.1125G>C, XR_429363.4:n.1125G>A, XR_429363.3:n.1079G>T, XR_429363.3:n.1079G>C, XR_429363.3:n.1079G>A, XR_429363.2:n.1137G>T, XR_429363.2:n.1137G>C, XR_429363.2:n.1137G>A, XR_943885.4:n.773G>T, XR_943885.4:n.773G>C, XR_943885.4:n.773G>A, XR_943885.3:n.1093G>T, XR_943885.3:n.1093G>C, XR_943885.3:n.1093G>A, XR_943885.2:n.1063G>T, XR_943885.2:n.1063G>C, XR_943885.2:n.1063G>A, XR_943885.1:n.1115G>T, XR_943885.1:n.1115G>C, XR_943885.1:n.1115G>A, XR_943887.2:n.1484G>T, XR_943887.2:n.1484G>C, XR_943887.2:n.1484G>A, XR_943887.1:n.1484G>T, XR_943887.1:n.1484G>C, XR_943887.1:n.1484G>A

Select item 148958689610.

rs1489586896 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54687317 (GRCh38)
14:55154035 (GRCh37)
Canonical SPDI:: NC_000014.9:54687316:T:C
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54687317T>C, NC_000014.8:g.55154035T>C, XR_429363.5:n.254A>G, XR_429363.4:n.590A>G, XR_429363.3:n.544A>G, XR_429363.2:n.602A>G, XR_429363.1:n.609A>G, XR_943885.4:n.254A>G, XR_943885.3:n.574A>G, XR_943885.2:n.544A>G, XR_943885.1:n.596A>G, XR_943887.2:n.254A>G, XR_943887.1:n.254A>G

Select item 148787839211.

rs1487878392 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54683871 (GRCh38)
14:55150589 (GRCh37)
Canonical SPDI:: NC_000014.9:54683870:A:G
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000014.9:g.54683871A>G, NC_000014.8:g.55150589A>G, XR_429363.5:n.1541T>C, XR_943885.4:n.1525T>C, XR_943887.2:n.2236T>C

Select item 148786587212.

rs1487865872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54689091 (GRCh38)
14:55155809 (GRCh37)
Canonical SPDI:: NC_000014.9:54689090:C:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000014.9:g.54689091C>T, NC_000014.8:g.55155809C>T

Select item 148734324513.

rs1487343245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:54683775 (GRCh38)
14:55150493 (GRCh37)
Canonical SPDI:: NC_000014.9:54683774:T:G
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_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_000014.9:g.54683775T>G, NC_000014.8:g.55150493T>G, XR_429363.5:n.1637A>C, XR_943885.4:n.1621A>C, XR_943887.2:n.2332A>C

Select item 148638368314.

rs1486383683 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54689451 (GRCh38)
14:55156169 (GRCh37)
Canonical SPDI:: NC_000014.9:54689450:T:C
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000014.9:g.54689451T>C, NC_000014.8:g.55156169T>C

Select item 148624390315.

rs1486243903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54685309 (GRCh38)
14:55152027 (GRCh37)
Canonical SPDI:: NC_000014.9:54685308:C:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.54685309C>T, NC_000014.8:g.55152027C>T, XR_943887.2:n.798G>A, XR_943887.1:n.798G>A

Select item 148602150616.

rs1486021506 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54689314 (GRCh38)
14:55156032 (GRCh37)
Canonical SPDI:: NC_000014.9:54689313:C:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.54689314C>T, NC_000014.8:g.55156032C>T

Select item 148431299817.

rs1484312998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:54684721 (GRCh38)
14:55151439 (GRCh37)
Canonical SPDI:: NC_000014.9:54684720:A:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000546/1 (Korea1K)
T=0.000955/16 (TOMMO)
HGVS:: NC_000014.9:g.54684721A>T, NC_000014.8:g.55151439A>T, XR_429363.5:n.691T>A, XR_429363.4:n.1027T>A, XR_429363.3:n.981T>A, XR_429363.2:n.1039T>A, XR_943885.4:n.675T>A, XR_943885.3:n.995T>A, XR_943885.2:n.965T>A, XR_943885.1:n.1017T>A, XR_943887.2:n.1386T>A, XR_943887.1:n.1386T>A

Select item 148405743518.

rs1484057435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54688523 (GRCh38)
14:55155241 (GRCh37)
Canonical SPDI:: NC_000014.9:54688522:C:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.54688523C>T, NC_000014.8:g.55155241C>T

Select item 148367941119.

rs1483679411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 14:54688949 (GRCh38)
14:55155667 (GRCh37)
Canonical SPDI:: NC_000014.9:54688948:G:A,NC_000014.9:54688948:G:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00354/59 (TOMMO)
T=0.05685/166 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000014.9:g.54688949G>A, NC_000014.9:g.54688949G>T, NC_000014.8:g.55155667G>A, NC_000014.8:g.55155667G>T

Select item 148245611020.

rs1482456110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:54687690 (GRCh38)
14:55154408 (GRCh37)
Canonical SPDI:: NC_000014.9:54687689:C:G,NC_000014.9:54687689:C:T
Gene:: SAMD4A (Varview), SAMD4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.54687690C>G, NC_000014.9:g.54687690C>T, NC_000014.8:g.55154408C>G, NC_000014.8:g.55154408C>T

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