SNP Links for Gene (Select 7454) - SNP

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Select item 14902278781.

rs1490227878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48690810 (GRCh38)
X:48549201 (GRCh37)
Canonical SPDI:: NC_000023.11:48690809:T:C
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48690810T>C, NW_004070880.2:g.930239T>C, NG_007877.1:g.12016T>C, NC_000023.10:g.48549201T>C, XM_017029786.2:c.*341T>C, XM_047442432.1:c.*341T>C, XM_047442433.1:c.*341T>C

Select item 14896816532.

rs1489681653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: X:48691573 (GRCh38)
X:48549964 (GRCh37)
Canonical SPDI:: NC_000023.11:48691572:C:A,NC_000023.11:48691572:C:G,NC_000023.11:48691572:C:T
Gene:: WAS (Varview), LOC124905187 (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
G=0.001027/3 (KOREAN)
HGVS:: NC_000023.11:g.48691573C>A, NC_000023.11:g.48691573C>G, NC_000023.11:g.48691573C>T, NW_004070880.2:g.931002C>A, NW_004070880.2:g.931002C>G, NW_004070880.2:g.931002C>T, NG_007877.1:g.12779C>A, NG_007877.1:g.12779C>G, NG_007877.1:g.12779C>T, NC_000023.10:g.48549964C>A, NC_000023.10:g.48549964C>G, NC_000023.10:g.48549964C>T, XR_007068229.1:n.860G>T, XR_007068229.1:n.860G>C, XR_007068229.1:n.860G>A

Select item 14889028393.

rs1488902839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48682820 (GRCh38)
X:48541209 (GRCh37)
Canonical SPDI:: NC_000023.11:48682819:G:A
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000089/9 (GnomAD)
A=0.000091/24 (TOPMED)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.48682820G>A, NW_004070880.2:g.922249G>A, NG_007877.1:g.4024G>A, NC_000023.10:g.48541209G>A

Select item 14881319084.

rs1488131908 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48682937 (GRCh38)
X:48541326 (GRCh37)
Canonical SPDI:: NC_000023.11:48682936:T:C
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.48682937T>C, NW_004070880.2:g.922366T>C, NG_007877.1:g.4141T>C, NC_000023.10:g.48541326T>C

Select item 14877206875.

rs1487720687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48683041 (GRCh38)
X:48541430 (GRCh37)
Canonical SPDI:: NC_000023.11:48683040:C:T
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48683041C>T, NW_004070880.2:g.922470C>T, NG_007877.1:g.4245C>T, NC_000023.10:g.48541430C>T

Select item 14874334426.

rs1487433442 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:48688638 (GRCh38)
X:48547027 (GRCh37)
Canonical SPDI:: NC_000023.11:48688637:A:C
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48688638A>C, NW_004070880.2:g.928067A>C, NG_007877.1:g.9842A>C, NC_000023.10:g.48547027A>C

Select item 14872651137.

rs1487265113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48682226 (GRCh38)
X:48540615 (GRCh37)
Canonical SPDI:: NC_000023.11:48682225:C:G
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.48682226C>G, NW_004070880.2:g.921655C>G, NG_007877.1:g.3430C>G, NC_000023.10:g.48540615C>G

Select item 14871505708.

rs1487150570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48683630 (GRCh38)
X:48542019 (GRCh37)
Canonical SPDI:: NC_000023.11:48683629:G:A
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48683630G>A, NW_004070880.2:g.923059G>A, NG_007877.1:g.4834G>A, NC_000023.10:g.48542019G>A

Select item 14869724949.

rs1486972494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48686303 (GRCh38)
X:48544692 (GRCh37)
Canonical SPDI:: NC_000023.11:48686302:G:T
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.48686303G>T, NW_004070880.2:g.925732G>T, NG_007877.1:g.7507G>T, NC_000023.10:g.48544692G>T

Select item 148530365210.

rs1485303652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48683432 (GRCh38)
X:48541821 (GRCh37)
Canonical SPDI:: NC_000023.11:48683431:G:A
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48683432G>A, NW_004070880.2:g.922861G>A, NG_007877.1:g.4636G>A, NC_000023.10:g.48541821G>A

Select item 148519192211.

rs1485191922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:48685426 (GRCh38)
X:48543815 (GRCh37)
Canonical SPDI:: NC_000023.11:48685425:T:A
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.48685426T>A, NW_004070880.2:g.924855T>A, NG_007877.1:g.6630T>A, NC_000023.10:g.48543815T>A

Select item 148467392712.

rs1484673927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48685476 (GRCh38)
X:48543865 (GRCh37)
Canonical SPDI:: NC_000023.11:48685475:C:G
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.48685476C>G, NW_004070880.2:g.924905C>G, NG_007877.1:g.6680C>G, NC_000023.10:g.48543865C>G

Select item 148363355013.

rs1483633550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48683267 (GRCh38)
X:48541656 (GRCh37)
Canonical SPDI:: NC_000023.11:48683266:G:A
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48683267G>A, NW_004070880.2:g.922696G>A, NG_007877.1:g.4471G>A, NC_000023.10:g.48541656G>A

Select item 148341286714.

rs1483412867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:48690164 (GRCh38)
X:48548554 (GRCh37)
Canonical SPDI:: NC_000023.11:48690163:T:A
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000225/3 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000023.11:g.48690164T>A, NW_004070880.2:g.929593T>A, NG_007877.1:g.11369T>A, NC_000023.10:g.48548554T>A, XM_017029786.2:c.1468T>A, XM_017029786.1:c.1468T>A, XM_047442432.1:c.1468T>A, XM_047442433.1:c.1312T>A, XP_016885275.1:p.Ser490Thr, XP_047298388.1:p.Ser490Thr, XP_047298389.1:p.Ser438Thr

Select item 148327996115.

rs1483279961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48691889 (GRCh38)
X:48550280 (GRCh37)
Canonical SPDI:: NC_000023.11:48691888:T:C
Gene:: WAS (Varview), LOC124905187 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48691889T>C, NW_004070880.2:g.931318T>C, NG_012530.2:g.150T>C, NG_007877.1:g.13095T>C, NC_000023.10:g.48550280T>C

Select item 148271540616.

rs1482715406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:48687188 (GRCh38)
X:48545577 (GRCh37)
Canonical SPDI:: NC_000023.11:48687187:T:G
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48687188T>G, NW_004070880.2:g.926617T>G, NG_007877.1:g.8392T>G, NC_000023.10:g.48545577T>G

Select item 148238679217.

rs1482386792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: X:48687839 (GRCh38)
X:48546228 (GRCh37)
Canonical SPDI:: NC_000023.11:48687838:T:A,NC_000023.11:48687838:T:G
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
G=0.000684/2 (KOREAN)
HGVS:: NC_000023.11:g.48687839T>A, NC_000023.11:g.48687839T>G, NW_004070880.2:g.927268T>A, NW_004070880.2:g.927268T>G, NG_007877.1:g.9043T>A, NG_007877.1:g.9043T>G, NC_000023.10:g.48546228T>A, NC_000023.10:g.48546228T>G

Select item 148167560618.

rs1481675606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:48684910 (GRCh38)
X:48543299 (GRCh37)
Canonical SPDI:: NC_000023.11:48684909:C:A
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48684910C>A, NW_004070880.2:g.924339C>A, NG_007877.1:g.6114C>A, NC_000023.10:g.48543299C>A

Select item 148032465419.

rs1480324654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48690951 (GRCh38)
X:48549342 (GRCh37)
Canonical SPDI:: NC_000023.11:48690950:C:T
Gene:: WAS (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.48690951C>T, NW_004070880.2:g.930380C>T, NG_007877.1:g.12157C>T, NC_000023.10:g.48549342C>T, XM_017029786.2:c.*482C>T, XM_047442432.1:c.*482C>T, XM_047442433.1:c.*482C>T

Select item 147885005920.

rs1478850059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48683991 (GRCh38)
X:48542380 (GRCh37)
Canonical SPDI:: NC_000023.11:48683990:C:T
Gene:: WAS (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000495/6 (TOMMO)
HGVS:: NC_000023.11:g.48683991C>T, NW_004070880.2:g.923420C>T, NG_007877.1:g.5195C>T, NC_000023.10:g.48542380C>T

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