SNP Links for Protein (Select 22095349) - SNP

Select item 14884903981.

rs1488490398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:27305142 (GRCh38)
1:27631633 (GRCh37)
Canonical SPDI:: NC_000001.11:27305141:G:C
Gene:: WDTC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27305142G>C, NC_000001.10:g.27631633G>C, NM_015023.5:c.1782G>C, NM_015023.4:c.1782G>C, NM_001276252.2:c.1785G>C, NM_001276252.1:c.1785G>C, XM_011541057.2:c.1785G>C, XM_011541057.1:c.1785G>C, XM_047449750.1:c.1785G>C, XM_047449761.1:c.1727G>C, XM_047449749.1:c.1785G>C, XM_047449760.1:c.1782G>C, XM_047449764.1:c.1727G>C, NM_001410767.1:c.1727G>C, XM_047449768.1:c.1533G>C, XP_047305717.1:p.Trp576Ser, XP_047305720.1:p.Trp576Ser

Select item 14869122242.

rs1486912224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27301416 (GRCh38)
1:27627907 (GRCh37)
Canonical SPDI:: NC_000001.11:27301415:T:C
Gene:: WDTC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000001.11:g.27301416T>C, NC_000001.10:g.27627907T>C, NM_015023.5:c.1420T>C, NM_015023.4:c.1420T>C, XM_011541058.4:c.1423T>C, XM_011541058.3:c.1423T>C, XM_011541058.2:c.1423T>C, XM_011541058.1:c.1423T>C, NM_001276252.2:c.1423T>C, NM_001276252.1:c.1423T>C, XM_011541057.2:c.1423T>C, XM_011541057.1:c.1423T>C, XM_047449750.1:c.1423T>C, XM_047449761.1:c.1423T>C, XM_047449749.1:c.1423T>C, XM_047449760.1:c.1420T>C, XM_047449764.1:c.1423T>C, NM_001410767.1:c.1423T>C, XM_047449768.1:c.1171T>C

Select item 14860354303.

rs1486035430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:27294620 (GRCh38)
1:27621111 (GRCh37)
Canonical SPDI:: NC_000001.11:27294619:G:C,NC_000001.11:27294619:G:T
Gene:: WDTC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
T=0.00068/2 (KOREAN)
HGVS:: NC_000001.11:g.27294620G>C, NC_000001.11:g.27294620G>T, NC_000001.10:g.27621111G>C, NC_000001.10:g.27621111G>T, NM_015023.5:c.864G>C, NM_015023.5:c.864G>T, NM_015023.4:c.864G>C, NM_015023.4:c.864G>T, XM_011541058.4:c.864G>C, XM_011541058.4:c.864G>T, XM_011541058.3:c.864G>C, XM_011541058.3:c.864G>T, XM_011541058.2:c.864G>C, XM_011541058.2:c.864G>T, XM_011541058.1:c.864G>C, XM_011541058.1:c.864G>T, NM_001276252.2:c.864G>C, NM_001276252.2:c.864G>T, NM_001276252.1:c.864G>C, NM_001276252.1:c.864G>T, XM_011541057.2:c.864G>C, XM_011541057.2:c.864G>T, XM_011541057.1:c.864G>C, XM_011541057.1:c.864G>T, XM_047449750.1:c.864G>C, XM_047449750.1:c.864G>T, XM_047449761.1:c.864G>C, XM_047449761.1:c.864G>T, XM_047449749.1:c.864G>C, XM_047449749.1:c.864G>T, XM_047449760.1:c.864G>C, XM_047449760.1:c.864G>T, XM_047449764.1:c.864G>C, XM_047449764.1:c.864G>T, NM_001410767.1:c.864G>C, NM_001410767.1:c.864G>T, XM_047449768.1:c.612G>C, XM_047449768.1:c.612G>T

Select item 14854558404.

rs1485455840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:27297100 (GRCh38)
1:27623591 (GRCh37)
Canonical SPDI:: NC_000001.11:27297099:T:C
Gene:: WDTC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27297100T>C, NC_000001.10:g.27623591T>C, NM_015023.5:c.999T>C, NM_015023.4:c.999T>C, XM_011541058.4:c.1002T>C, XM_011541058.3:c.1002T>C, XM_011541058.2:c.1002T>C, XM_011541058.1:c.1002T>C, NM_001276252.2:c.1002T>C, NM_001276252.1:c.1002T>C, XM_011541057.2:c.1002T>C, XM_011541057.1:c.1002T>C, XM_047449750.1:c.1002T>C, XM_047449761.1:c.1002T>C, XM_047449749.1:c.1002T>C, XM_047449760.1:c.999T>C, XM_047449764.1:c.1002T>C, NM_001410767.1:c.1002T>C, XM_047449768.1:c.750T>C

Select item 14835194075.

rs1483519407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27303710 (GRCh38)
1:27630201 (GRCh37)
Canonical SPDI:: NC_000001.11:27303709:C:T
Gene:: WDTC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27303710C>T, NC_000001.10:g.27630201C>T, NM_015023.5:c.1555C>T, NM_015023.4:c.1555C>T, NM_001276252.2:c.1558C>T, NM_001276252.1:c.1558C>T, XM_011541057.2:c.1558C>T, XM_011541057.1:c.1558C>T, XM_047449750.1:c.1558C>T, XM_047449761.1:c.1558C>T, XM_047449749.1:c.1558C>T, XM_047449760.1:c.1555C>T, XM_047449764.1:c.1558C>T, NM_001410767.1:c.1558C>T, XM_047449768.1:c.1306C>T, NP_055838.2:p.Arg519Trp, NP_001263181.1:p.Arg520Trp, XP_011539359.1:p.Arg520Trp, XP_047305706.1:p.Arg520Trp, XP_047305717.1:p.Arg520Trp, XP_047305705.1:p.Arg520Trp, XP_047305716.1:p.Arg519Trp, XP_047305720.1:p.Arg520Trp, XP_047305724.1:p.Arg436Trp

Select item 14826293946.

rs1482629394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27305150 (GRCh38)
1:27631641 (GRCh37)
Canonical SPDI:: NC_000001.11:27305149:G:A
Gene:: WDTC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.27305150G>A, NC_000001.10:g.27631641G>A, NM_015023.5:c.1790G>A, NM_015023.4:c.1790G>A, NM_001276252.2:c.1793G>A, NM_001276252.1:c.1793G>A, XM_011541057.2:c.1793G>A, XM_011541057.1:c.1793G>A, XM_047449750.1:c.1793G>A, XM_047449761.1:c.1735G>A, XM_047449749.1:c.1793G>A, XM_047449760.1:c.1790G>A, XM_047449764.1:c.1735G>A, NM_001410767.1:c.1735G>A, XM_047449768.1:c.1541G>A, NP_055838.2:p.Ser597Asn, NP_001263181.1:p.Ser598Asn, XP_011539359.1:p.Ser598Asn, XP_047305706.1:p.Ser598Asn, XP_047305717.1:p.Val579Met, XP_047305705.1:p.Ser598Asn, XP_047305716.1:p.Ser597Asn, XP_047305720.1:p.Val579Met, XP_047305724.1:p.Ser514Asn

Select item 14816194217.

rs1481619421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27306304 (GRCh38)
1:27632795 (GRCh37)
Canonical SPDI:: NC_000001.11:27306303:C:T
Gene:: WDTC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.27306304C>T, NC_000001.10:g.27632795C>T, NM_015023.5:c.1952C>T, NM_015023.4:c.1952C>T, NM_001276252.2:c.1955C>T, NM_001276252.1:c.1955C>T, XM_011541057.2:c.1955C>T, XM_011541057.1:c.1955C>T, XM_047449750.1:c.1955C>T, XM_047449761.1:c.*49C>T, XM_047449749.1:c.1955C>T, XM_047449760.1:c.1952C>T, XM_047449764.1:c.*49C>T, NM_001410767.1:c.*49C>T, XM_047449768.1:c.1703C>T, NP_055838.2:p.Thr651Met, NP_001263181.1:p.Thr652Met, XP_011539359.1:p.Thr652Met, XP_047305706.1:p.Thr652Met, XP_047305705.1:p.Thr652Met, XP_047305716.1:p.Thr651Met, XP_047305724.1:p.Thr568Met

Select item 14775504268.

rs1477550426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:27287801 (GRCh38)
1:27614292 (GRCh37)
Canonical SPDI:: NC_000001.11:27287800:T:A
Gene:: WDTC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27287801T>A, NC_000001.10:g.27614292T>A, NM_015023.5:c.419T>A, NM_015023.4:c.419T>A, XM_011541058.4:c.419T>A, XM_011541058.3:c.419T>A, XM_011541058.2:c.419T>A, XM_011541058.1:c.419T>A, NM_001276252.2:c.419T>A, NM_001276252.1:c.419T>A, XM_011541057.2:c.419T>A, XM_011541057.1:c.419T>A, XM_047449750.1:c.419T>A, XM_047449761.1:c.419T>A, XM_047449749.1:c.419T>A, XM_047449760.1:c.419T>A, XM_047449764.1:c.419T>A, NM_001410767.1:c.419T>A, XM_047449768.1:c.167T>A, NP_055838.2:p.Ile140Asn, XP_011539360.1:p.Ile140Asn, NP_001263181.1:p.Ile140Asn, XP_011539359.1:p.Ile140Asn, XP_047305706.1:p.Ile140Asn, XP_047305717.1:p.Ile140Asn, XP_047305705.1:p.Ile140Asn, XP_047305716.1:p.Ile140Asn, XP_047305720.1:p.Ile140Asn, XP_047305724.1:p.Ile56Asn

Select item 14771827999.

rs1477182799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27306298 (GRCh38)
1:27632789 (GRCh37)
Canonical SPDI:: NC_000001.11:27306297:G:A
Gene:: WDTC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000016/4 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.27306298G>A, NC_000001.10:g.27632789G>A, NM_015023.5:c.1946G>A, NM_015023.4:c.1946G>A, NM_001276252.2:c.1949G>A, NM_001276252.1:c.1949G>A, XM_011541057.2:c.1949G>A, XM_011541057.1:c.1949G>A, XM_047449750.1:c.1949G>A, XM_047449761.1:c.*43G>A, XM_047449749.1:c.1949G>A, XM_047449760.1:c.1946G>A, XM_047449764.1:c.*43G>A, NM_001410767.1:c.*43G>A, XM_047449768.1:c.1697G>A, NP_055838.2:p.Arg649Gln, NP_001263181.1:p.Arg650Gln, XP_011539359.1:p.Arg650Gln, XP_047305706.1:p.Arg650Gln, XP_047305705.1:p.Arg650Gln, XP_047305716.1:p.Arg649Gln, XP_047305724.1:p.Arg566Gln

Select item 147708505310.

rs1477085053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:27292370 (GRCh38)
1:27618861 (GRCh37)
Canonical SPDI:: NC_000001.11:27292369:A:C,NC_000001.11:27292369:A:G
Gene:: WDTC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00005/1 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.27292370A>C, NC_000001.11:g.27292370A>G, NC_000001.10:g.27618861A>C, NC_000001.10:g.27618861A>G, NM_015023.5:c.635A>C, NM_015023.5:c.635A>G, NM_015023.4:c.635A>C, NM_015023.4:c.635A>G, XM_011541058.4:c.635A>C, XM_011541058.4:c.635A>G, XM_011541058.3:c.635A>C, XM_011541058.3:c.635A>G, XM_011541058.2:c.635A>C, XM_011541058.2:c.635A>G, XM_011541058.1:c.635A>C, XM_011541058.1:c.635A>G, NM_001276252.2:c.635A>C, NM_001276252.2:c.635A>G, NM_001276252.1:c.635A>C, NM_001276252.1:c.635A>G, XM_011541057.2:c.635A>C, XM_011541057.2:c.635A>G, XM_011541057.1:c.635A>C, XM_011541057.1:c.635A>G, XM_047449750.1:c.635A>C, XM_047449750.1:c.635A>G, XM_047449761.1:c.635A>C, XM_047449761.1:c.635A>G, XM_047449749.1:c.635A>C, XM_047449749.1:c.635A>G, XM_047449760.1:c.635A>C, XM_047449760.1:c.635A>G, XM_047449764.1:c.635A>C, XM_047449764.1:c.635A>G, NM_001410767.1:c.635A>C, NM_001410767.1:c.635A>G, XM_047449768.1:c.383A>C, XM_047449768.1:c.383A>G, NP_055838.2:p.Tyr212Ser, NP_055838.2:p.Tyr212Cys, XP_011539360.1:p.Tyr212Ser, XP_011539360.1:p.Tyr212Cys, NP_001263181.1:p.Tyr212Ser, NP_001263181.1:p.Tyr212Cys, XP_011539359.1:p.Tyr212Ser, XP_011539359.1:p.Tyr212Cys, XP_047305706.1:p.Tyr212Ser, XP_047305706.1:p.Tyr212Cys, XP_047305717.1:p.Tyr212Ser, XP_047305717.1:p.Tyr212Cys, XP_047305705.1:p.Tyr212Ser, XP_047305705.1:p.Tyr212Cys, XP_047305716.1:p.Tyr212Ser, XP_047305716.1:p.Tyr212Cys, XP_047305720.1:p.Tyr212Ser, XP_047305720.1:p.Tyr212Cys, XP_047305724.1:p.Tyr128Ser, XP_047305724.1:p.Tyr128Cys

Select item 147574947211.

rs1475749472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27305049 (GRCh38)
1:27631540 (GRCh37)
Canonical SPDI:: NC_000001.11:27305048:C:T
Gene:: WDTC1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000001.11:g.27305049C>T, NC_000001.10:g.27631540C>T, NM_015023.5:c.1689C>T, NM_015023.4:c.1689C>T, NM_001276252.2:c.1692C>T, NM_001276252.1:c.1692C>T, XM_011541057.2:c.1692C>T, XM_011541057.1:c.1692C>T, XM_047449750.1:c.1692C>T, XM_047449749.1:c.1692C>T, XM_047449760.1:c.1689C>T, XM_047449768.1:c.1440C>T

Select item 147533434312.

rs1475334343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:27287778 (GRCh38)
1:27614269 (GRCh37)
Canonical SPDI:: NC_000001.11:27287777:C:A
Gene:: WDTC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000001.11:g.27287778C>A, NC_000001.10:g.27614269C>A, NM_015023.5:c.396C>A, NM_015023.4:c.396C>A, XM_011541058.4:c.396C>A, XM_011541058.3:c.396C>A, XM_011541058.2:c.396C>A, XM_011541058.1:c.396C>A, NM_001276252.2:c.396C>A, NM_001276252.1:c.396C>A, XM_011541057.2:c.396C>A, XM_011541057.1:c.396C>A, XM_047449750.1:c.396C>A, XM_047449761.1:c.396C>A, XM_047449749.1:c.396C>A, XM_047449760.1:c.396C>A, XM_047449764.1:c.396C>A, NM_001410767.1:c.396C>A, XM_047449768.1:c.144C>A, NP_055838.2:p.Asp132Glu, XP_011539360.1:p.Asp132Glu, NP_001263181.1:p.Asp132Glu, XP_011539359.1:p.Asp132Glu, XP_047305706.1:p.Asp132Glu, XP_047305717.1:p.Asp132Glu, XP_047305705.1:p.Asp132Glu, XP_047305716.1:p.Asp132Glu, XP_047305720.1:p.Asp132Glu, XP_047305724.1:p.Asp48Glu

Select item 147416489413.

rs1474164894 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27303729 (GRCh38)
1:27630220 (GRCh37)
Canonical SPDI:: NC_000001.11:27303728:A:G
Gene:: WDTC1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27303729A>G, NC_000001.10:g.27630220A>G, NM_015023.5:c.1574A>G, NM_015023.4:c.1574A>G, NM_001276252.2:c.1577A>G, NM_001276252.1:c.1577A>G, XM_011541057.2:c.1577A>G, XM_011541057.1:c.1577A>G, XM_047449750.1:c.1577A>G, XM_047449761.1:c.1577A>G, XM_047449749.1:c.1577A>G, XM_047449760.1:c.1574A>G, XM_047449764.1:c.1577A>G, NM_001410767.1:c.1577A>G, XM_047449768.1:c.1325A>G, NP_055838.2:p.Tyr525Cys, NP_001263181.1:p.Tyr526Cys, XP_011539359.1:p.Tyr526Cys, XP_047305706.1:p.Tyr526Cys, XP_047305717.1:p.Tyr526Cys, XP_047305705.1:p.Tyr526Cys, XP_047305716.1:p.Tyr525Cys, XP_047305720.1:p.Tyr526Cys, XP_047305724.1:p.Tyr442Cys

Select item 147320721314.

rs1473207213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:27306374 (GRCh38)
1:27632865 (GRCh37)
Canonical SPDI:: NC_000001.11:27306373:G:T
Gene:: WDTC1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27306374G>T, NC_000001.10:g.27632865G>T, NM_015023.5:c.2022G>T, NM_015023.4:c.2022G>T, NM_001276252.2:c.2025G>T, NM_001276252.1:c.2025G>T, XM_011541057.2:c.2025G>T, XM_011541057.1:c.2025G>T, XM_047449750.1:c.2025G>T, XM_047449761.1:c.*119G>T, XM_047449749.1:c.2025G>T, XM_047449760.1:c.2022G>T, XM_047449764.1:c.*119G>T, NM_001410767.1:c.*119G>T, XM_047449768.1:c.1773G>T

Select item 147053853215.

rs1470538532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:27297071 (GRCh38)
1:27623562 (GRCh37)
Canonical SPDI:: NC_000001.11:27297070:A:G
Gene:: WDTC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000016/2 (ExAC)
G=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27297071A>G, NC_000001.10:g.27623562A>G, NM_015023.5:c.970A>G, NM_015023.4:c.970A>G, XM_011541058.4:c.973A>G, XM_011541058.3:c.973A>G, XM_011541058.2:c.973A>G, XM_011541058.1:c.973A>G, NM_001276252.2:c.973A>G, NM_001276252.1:c.973A>G, XM_011541057.2:c.973A>G, XM_011541057.1:c.973A>G, XM_047449750.1:c.973A>G, XM_047449761.1:c.973A>G, XM_047449749.1:c.973A>G, XM_047449760.1:c.970A>G, XM_047449764.1:c.973A>G, NM_001410767.1:c.973A>G, XM_047449768.1:c.721A>G, NP_055838.2:p.Thr324Ala, XP_011539360.1:p.Thr325Ala, NP_001263181.1:p.Thr325Ala, XP_011539359.1:p.Thr325Ala, XP_047305706.1:p.Thr325Ala, XP_047305717.1:p.Thr325Ala, XP_047305705.1:p.Thr325Ala, XP_047305716.1:p.Thr324Ala, XP_047305720.1:p.Thr325Ala, XP_047305724.1:p.Thr241Ala

Select item 146873588216.

rs1468735882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:27292309 (GRCh38)
1:27618800 (GRCh37)
Canonical SPDI:: NC_000001.11:27292308:G:A,NC_000001.11:27292308:G:C
Gene:: WDTC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.27292309G>A, NC_000001.11:g.27292309G>C, NC_000001.10:g.27618800G>A, NC_000001.10:g.27618800G>C, NM_015023.5:c.574G>A, NM_015023.5:c.574G>C, NM_015023.4:c.574G>A, NM_015023.4:c.574G>C, XM_011541058.4:c.574G>A, XM_011541058.4:c.574G>C, XM_011541058.3:c.574G>A, XM_011541058.3:c.574G>C, XM_011541058.2:c.574G>A, XM_011541058.2:c.574G>C, XM_011541058.1:c.574G>A, XM_011541058.1:c.574G>C, NM_001276252.2:c.574G>A, NM_001276252.2:c.574G>C, NM_001276252.1:c.574G>A, NM_001276252.1:c.574G>C, XM_011541057.2:c.574G>A, XM_011541057.2:c.574G>C, XM_011541057.1:c.574G>A, XM_011541057.1:c.574G>C, XM_047449750.1:c.574G>A, XM_047449750.1:c.574G>C, XM_047449761.1:c.574G>A, XM_047449761.1:c.574G>C, XM_047449749.1:c.574G>A, XM_047449749.1:c.574G>C, XM_047449760.1:c.574G>A, XM_047449760.1:c.574G>C, XM_047449764.1:c.574G>A, XM_047449764.1:c.574G>C, NM_001410767.1:c.574G>A, NM_001410767.1:c.574G>C, XM_047449768.1:c.322G>A, XM_047449768.1:c.322G>C, NP_055838.2:p.Val192Ile, NP_055838.2:p.Val192Leu, XP_011539360.1:p.Val192Ile, XP_011539360.1:p.Val192Leu, NP_001263181.1:p.Val192Ile, NP_001263181.1:p.Val192Leu, XP_011539359.1:p.Val192Ile, XP_011539359.1:p.Val192Leu, XP_047305706.1:p.Val192Ile, XP_047305706.1:p.Val192Leu, XP_047305717.1:p.Val192Ile, XP_047305717.1:p.Val192Leu, XP_047305705.1:p.Val192Ile, XP_047305705.1:p.Val192Leu, XP_047305716.1:p.Val192Ile, XP_047305716.1:p.Val192Leu, XP_047305720.1:p.Val192Ile, XP_047305720.1:p.Val192Leu, XP_047305724.1:p.Val108Ile, XP_047305724.1:p.Val108Leu

Select item 146803656317.

rs1468036563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:27306204 (GRCh38)
1:27632695 (GRCh37)
Canonical SPDI:: NC_000001.11:27306203:C:T
Gene:: WDTC1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27306204C>T, NC_000001.10:g.27632695C>T, NM_015023.5:c.1852C>T, NM_015023.4:c.1852C>T, NM_001276252.2:c.1855C>T, NM_001276252.1:c.1855C>T, XM_011541057.2:c.1855C>T, XM_011541057.1:c.1855C>T, XM_047449750.1:c.1855C>T, XM_047449761.1:c.1797C>T, XM_047449749.1:c.1855C>T, XM_047449760.1:c.1852C>T, XM_047449764.1:c.1797C>T, NM_001410767.1:c.1797C>T, XM_047449768.1:c.1603C>T, NP_055838.2:p.Arg618Ter, NP_001263181.1:p.Arg619Ter, XP_011539359.1:p.Arg619Ter, XP_047305706.1:p.Arg619Ter, XP_047305705.1:p.Arg619Ter, XP_047305716.1:p.Arg618Ter, XP_047305724.1:p.Arg535Ter

Select item 146581563418.

rs1465815634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:27296401 (GRCh38)
1:27622892 (GRCh37)
Canonical SPDI:: NC_000001.11:27296400:G:A
Gene:: WDTC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.27296401G>A, NC_000001.10:g.27622892G>A, NM_015023.5:c.949G>A, NM_015023.4:c.949G>A, XM_011541058.4:c.949G>A, XM_011541058.3:c.949G>A, XM_011541058.2:c.949G>A, XM_011541058.1:c.949G>A, NM_001276252.2:c.949G>A, NM_001276252.1:c.949G>A, XM_011541057.2:c.949G>A, XM_011541057.1:c.949G>A, XM_047449750.1:c.949G>A, XM_047449761.1:c.949G>A, XM_047449749.1:c.949G>A, XM_047449760.1:c.949G>A, XM_047449764.1:c.949G>A, NM_001410767.1:c.949G>A, XM_047449768.1:c.697G>A, NP_055838.2:p.Val317Ile, XP_011539360.1:p.Glu317Lys, NP_001263181.1:p.Glu317Lys, XP_011539359.1:p.Glu317Lys, XP_047305706.1:p.Glu317Lys, XP_047305717.1:p.Glu317Lys, XP_047305705.1:p.Glu317Lys, XP_047305716.1:p.Val317Ile, XP_047305720.1:p.Glu317Lys, XP_047305724.1:p.Glu233Lys

Select item 146453355819.

rs1464533558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:27306255 (GRCh38)
1:27632746 (GRCh37)
Canonical SPDI:: NC_000001.11:27306254:A:C
Gene:: WDTC1 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.27306255A>C, NC_000001.10:g.27632746A>C, NM_015023.5:c.1903A>C, NM_015023.4:c.1903A>C, NM_001276252.2:c.1906A>C, NM_001276252.1:c.1906A>C, XM_011541057.2:c.1906A>C, XM_011541057.1:c.1906A>C, XM_047449750.1:c.1906A>C, XM_047449761.1:c.1848A>C, XM_047449749.1:c.1906A>C, XM_047449760.1:c.1903A>C, XM_047449764.1:c.1848A>C, NM_001410767.1:c.1848A>C, XM_047449768.1:c.1654A>C, NP_055838.2:p.Asn635His, NP_001263181.1:p.Asn636His, XP_011539359.1:p.Asn636His, XP_047305706.1:p.Asn636His, XP_047305717.1:p.Ter616Cys, XP_047305705.1:p.Asn636His, XP_047305716.1:p.Asn635His, XP_047305720.1:p.Ter616Cys, XP_047305724.1:p.Asn552His

Select item 146400057220.

rs1464000572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:27292386 (GRCh38)
1:27618877 (GRCh37)
Canonical SPDI:: NC_000001.11:27292385:C:G
Gene:: WDTC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.27292386C>G, NC_000001.10:g.27618877C>G, NM_015023.5:c.651C>G, NM_015023.4:c.651C>G, XM_011541058.4:c.651C>G, XM_011541058.3:c.651C>G, XM_011541058.2:c.651C>G, XM_011541058.1:c.651C>G, NM_001276252.2:c.651C>G, NM_001276252.1:c.651C>G, XM_011541057.2:c.651C>G, XM_011541057.1:c.651C>G, XM_047449750.1:c.651C>G, XM_047449761.1:c.651C>G, XM_047449749.1:c.651C>G, XM_047449760.1:c.651C>G, XM_047449764.1:c.651C>G, NM_001410767.1:c.651C>G, XM_047449768.1:c.399C>G, NP_055838.2:p.Ile217Met, XP_011539360.1:p.Ile217Met, NP_001263181.1:p.Ile217Met, XP_011539359.1:p.Ile217Met, XP_047305706.1:p.Ile217Met, XP_047305717.1:p.Ile217Met, XP_047305705.1:p.Ile217Met, XP_047305716.1:p.Ile217Met, XP_047305720.1:p.Ile217Met, XP_047305724.1:p.Ile133Met

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