SNP Links for Gene (Select 347454) - SNP

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Select item 14889640761.

rs1488964076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:119757900 (GRCh38)
X:118891863 (GRCh37)
Canonical SPDI:: NC_000023.11:119757899:C:G,NC_000023.11:119757899:C:T
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119757900C>G, NC_000023.11:g.119757900C>T, NC_000023.10:g.118891863C>G, NC_000023.10:g.118891863C>T

Select item 14884374002.

rs1488437400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:119756660 (GRCh38)
X:118890623 (GRCh37)
Canonical SPDI:: NC_000023.11:119756659:C:G
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.119756660C>G, NC_000023.10:g.118890623C>G

Select item 14882660393.

rs1488266039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119759642 (GRCh38)
X:118893605 (GRCh37)
Canonical SPDI:: NC_000023.11:119759641:G:A
Gene:: SOWAHD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.119759642G>A, NC_000023.10:g.118893605G>A, NM_001105576.3:c.*27G>A, NM_001105576.2:c.*27G>A

Select item 14861831094.

rs1486183109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119758989 (GRCh38)
X:118892952 (GRCh37)
Canonical SPDI:: NC_000023.11:119758988:C:A
Gene:: SOWAHD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.119758989C>A, NC_000023.10:g.118892952C>A, NM_001105576.3:c.322C>A, NM_001105576.2:c.322C>A, NP_001099046.1:p.Leu108Met

Select item 14856897575.

rs1485689757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119758943 (GRCh38)
X:118892906 (GRCh37)
Canonical SPDI:: NC_000023.11:119758942:G:A
Gene:: SOWAHD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.119758943G>A, NC_000023.10:g.118892906G>A, NM_001105576.3:c.276G>A, NM_001105576.2:c.276G>A

Select item 14851695636.

rs1485169563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119758060 (GRCh38)
X:118892023 (GRCh37)
Canonical SPDI:: NC_000023.11:119758059:G:A
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.119758060G>A, NC_000023.10:g.118892023G>A

Select item 14847583227.

rs1484758322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:119757080 (GRCh38)
X:118891043 (GRCh37)
Canonical SPDI:: NC_000023.11:119757079:C:G
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.119757080C>G, NC_000023.10:g.118891043C>G

Select item 14847069128.

rs1484706912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119758439 (GRCh38)
X:118892402 (GRCh37)
Canonical SPDI:: NC_000023.11:119758438:C:T
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.119758439C>T, NC_000023.10:g.118892402C>T

Select item 14843023799.

rs1484302379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119758261 (GRCh38)
X:118892224 (GRCh37)
Canonical SPDI:: NC_000023.11:119758260:C:A
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.119758261C>A, NC_000023.10:g.118892224C>A

Select item 148387330410.

rs1483873304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:119760353 (GRCh38)
X:118894316 (GRCh37)
Canonical SPDI:: NC_000023.11:119760352:C:A
Gene:: SOWAHD (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.119760353C>A, NC_000023.10:g.118894316C>A

Select item 148103886811.

rs1481038868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:119759472 (GRCh38)
X:118893435 (GRCh37)
Canonical SPDI:: NC_000023.11:119759471:G:A
Gene:: SOWAHD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119759472G>A, NC_000023.10:g.118893435G>A, NM_001105576.3:c.805G>A, NM_001105576.2:c.805G>A, NP_001099046.1:p.Ala269Thr

Select item 148014897112.

rs1480148971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119757751 (GRCh38)
X:118891714 (GRCh37)
Canonical SPDI:: NC_000023.11:119757750:C:T
Gene:: SOWAHD (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_000023.11:g.119757751C>T, NC_000023.10:g.118891714C>T

Select item 147772394813.

rs1477723948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:119758762 (GRCh38)
X:118892725 (GRCh37)
Canonical SPDI:: NC_000023.11:119758761:C:G,NC_000023.11:119758761:C:T
Gene:: SOWAHD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.119758762C>G, NC_000023.11:g.119758762C>T, NC_000023.10:g.118892725C>G, NC_000023.10:g.118892725C>T, NM_001105576.3:c.95C>G, NM_001105576.3:c.95C>T, NM_001105576.2:c.95C>G, NM_001105576.2:c.95C>T, NP_001099046.1:p.Ser32Trp, NP_001099046.1:p.Ser32Leu

Select item 147756605514.

rs1477566055 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119757397 (GRCh38)
X:118891360 (GRCh37)
Canonical SPDI:: NC_000023.11:119757396:C:T
Gene:: SOWAHD (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_000023.11:g.119757397C>T, NC_000023.10:g.118891360C>T

Select item 147678947415.

rs1476789474 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:119759035 (GRCh38)
X:118892998 (GRCh37)
Canonical SPDI:: NC_000023.11:119759034:A:G
Gene:: SOWAHD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000009/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.119759035A>G, NC_000023.10:g.118892998A>G, NM_001105576.3:c.368A>G, NM_001105576.2:c.368A>G, NP_001099046.1:p.Glu123Gly

Select item 147624929716.

rs1476249297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:119759750 (GRCh38)
X:118893713 (GRCh37)
Canonical SPDI:: NC_000023.11:119759749:G:C,NC_000023.11:119759749:G:T
Gene:: SOWAHD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.119759750G>C, NC_000023.11:g.119759750G>T, NC_000023.10:g.118893713G>C, NC_000023.10:g.118893713G>T, NM_001105576.3:c.*135G>C, NM_001105576.3:c.*135G>T, NM_001105576.2:c.*135G>C, NM_001105576.2:c.*135G>T

Select item 147532429717.

rs1475324297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:119757868 (GRCh38)
X:118891831 (GRCh37)
Canonical SPDI:: NC_000023.11:119757867:G:T
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.119757868G>T, NC_000023.10:g.118891831G>T

Select item 147510286118.

rs1475102861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119758581 (GRCh38)
X:118892544 (GRCh37)
Canonical SPDI:: NC_000023.11:119758580:C:T
Gene:: SOWAHD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.119758581C>T, NC_000023.10:g.118892544C>T

Select item 147456808019.

rs1474568080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:119759556 (GRCh38)
X:118893519 (GRCh37)
Canonical SPDI:: NC_000023.11:119759555:C:T
Gene:: SOWAHD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.119759556C>T, NC_000023.10:g.118893519C>T, NM_001105576.3:c.889C>T, NM_001105576.2:c.889C>T, NP_001099046.1:p.Arg297Trp

Select item 147434449120.

rs1474344491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:119757184 (GRCh38)
X:118891147 (GRCh37)
Canonical SPDI:: NC_000023.11:119757183:T:A
Gene:: SOWAHD (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.119757184T>A, NC_000023.10:g.118891147T>A

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