SNP Links for Protein (Select 1034582423) - SNP

Links from Protein

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Select item 14909255731.

rs1490925573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:108248319 (GRCh38)
12:108642096 (GRCh37)
Canonical SPDI:: NC_000012.12:108248318:C:A
Gene:: WSCD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.108248319C>A, NC_000012.11:g.108642096C>A, NM_014653.4:c.1674C>A, NM_014653.3:c.1674C>A, NM_014653.2:c.1674C>A, XM_017020250.3:c.1374C>A, XM_017020250.2:c.1374C>A, XM_017020250.1:c.1374C>A, XM_017020246.3:c.1674C>A, XM_017020246.2:c.1674C>A, XM_017020246.1:c.1674C>A, XM_017020251.3:c.1374C>A, XM_017020251.2:c.1374C>A, XM_017020251.1:c.1374C>A, XM_017020244.2:c.1674C>A, XM_017020244.1:c.1674C>A, XM_017020248.2:c.1674C>A, XM_017020248.1:c.1674C>A, XM_017020243.2:c.1674C>A, XM_017020243.1:c.1674C>A, XM_017020252.2:c.1374C>A, XM_017020252.1:c.1374C>A, XM_017020245.2:c.1674C>A, XM_017020245.1:c.1674C>A, XM_017020247.2:c.1674C>A, XM_017020247.1:c.1674C>A, NM_001304447.2:c.1674C>A, NM_001304447.1:c.1674C>A, XM_047429913.1:c.1374C>A

Select item 14874429202.

rs1487442920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:108248260 (GRCh38)
12:108642037 (GRCh37)
Canonical SPDI:: NC_000012.12:108248259:A:C,NC_000012.12:108248259:A:T
Gene:: WSCD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.108248260A>C, NC_000012.12:g.108248260A>T, NC_000012.11:g.108642037A>C, NC_000012.11:g.108642037A>T, NM_014653.4:c.1615A>C, NM_014653.4:c.1615A>T, NM_014653.3:c.1615A>C, NM_014653.3:c.1615A>T, NM_014653.2:c.1615A>C, NM_014653.2:c.1615A>T, XM_017020250.3:c.1315A>C, XM_017020250.3:c.1315A>T, XM_017020250.2:c.1315A>C, XM_017020250.2:c.1315A>T, XM_017020250.1:c.1315A>C, XM_017020250.1:c.1315A>T, XM_017020246.3:c.1615A>C, XM_017020246.3:c.1615A>T, XM_017020246.2:c.1615A>C, XM_017020246.2:c.1615A>T, XM_017020246.1:c.1615A>C, XM_017020246.1:c.1615A>T, XM_017020251.3:c.1315A>C, XM_017020251.3:c.1315A>T, XM_017020251.2:c.1315A>C, XM_017020251.2:c.1315A>T, XM_017020251.1:c.1315A>C, XM_017020251.1:c.1315A>T, XM_017020244.2:c.1615A>C, XM_017020244.2:c.1615A>T, XM_017020244.1:c.1615A>C, XM_017020244.1:c.1615A>T, XM_017020248.2:c.1615A>C, XM_017020248.2:c.1615A>T, XM_017020248.1:c.1615A>C, XM_017020248.1:c.1615A>T, XM_017020243.2:c.1615A>C, XM_017020243.2:c.1615A>T, XM_017020243.1:c.1615A>C, XM_017020243.1:c.1615A>T, XM_017020252.2:c.1315A>C, XM_017020252.2:c.1315A>T, XM_017020252.1:c.1315A>C, XM_017020252.1:c.1315A>T, XM_017020245.2:c.1615A>C, XM_017020245.2:c.1615A>T, XM_017020245.1:c.1615A>C, XM_017020245.1:c.1615A>T, XM_017020247.2:c.1615A>C, XM_017020247.2:c.1615A>T, XM_017020247.1:c.1615A>C, XM_017020247.1:c.1615A>T, NM_001304447.2:c.1615A>C, NM_001304447.2:c.1615A>T, NM_001304447.1:c.1615A>C, NM_001304447.1:c.1615A>T, XM_047429913.1:c.1315A>C, XM_047429913.1:c.1315A>T, NP_055468.2:p.Ile539Leu, NP_055468.2:p.Ile539Phe, XP_016875739.1:p.Ile439Leu, XP_016875739.1:p.Ile439Phe, XP_016875735.1:p.Ile539Leu, XP_016875735.1:p.Ile539Phe, XP_016875740.1:p.Ile439Leu, XP_016875740.1:p.Ile439Phe, XP_016875733.1:p.Ile539Leu, XP_016875733.1:p.Ile539Phe, XP_016875737.1:p.Ile539Leu, XP_016875737.1:p.Ile539Phe, XP_016875732.1:p.Ile539Leu, XP_016875732.1:p.Ile539Phe, XP_016875741.1:p.Ile439Leu, XP_016875741.1:p.Ile439Phe, XP_016875734.1:p.Ile539Leu, XP_016875734.1:p.Ile539Phe, XP_016875736.1:p.Ile539Leu, XP_016875736.1:p.Ile539Phe, NP_001291376.1:p.Ile539Leu, NP_001291376.1:p.Ile539Phe, XP_047285869.1:p.Ile439Leu, XP_047285869.1:p.Ile439Phe

Select item 14828814583.

rs1482881458 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGGATGGTCAGCCTGCTGGGC [Show Flanks]
Chromosome:: 12:108248114 (GRCh38)
12:108641892 (GRCh37)
Canonical SPDI:: NC_000012.12:108248114:GCTGGGCCGGATGGTCAGCCTGCTGGGC:GCTGGGCCGGATGGTCAGCCTGCTGGGCCGGATGGTCAGCCTGCTGGGC
Gene:: WSCD2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,genic_downstream_transcript_variant
HGVS:: NC_000012.12:g.108248122_108248142dup, NC_000012.11:g.108641899_108641919dup, NM_014653.4:c.1477_1497dup, NM_014653.3:c.1477_1497dup, NM_014653.2:c.1477_1497dup, XM_017020250.3:c.1177_1197dup, XM_017020250.2:c.1177_1197dup, XM_017020250.1:c.1177_1197dup, XM_017020246.3:c.1477_1497dup, XM_017020246.2:c.1477_1497dup, XM_017020246.1:c.1477_1497dup, XM_017020251.3:c.1177_1197dup, XM_017020251.2:c.1177_1197dup, XM_017020251.1:c.1177_1197dup, XM_017020244.2:c.1477_1497dup, XM_017020244.1:c.1477_1497dup, XM_017020248.2:c.1477_1497dup, XM_017020248.1:c.1477_1497dup, XM_017020243.2:c.1477_1497dup, XM_017020243.1:c.1477_1497dup, XM_017020252.2:c.1177_1197dup, XM_017020252.1:c.1177_1197dup, XM_017020245.2:c.1477_1497dup, XM_017020245.1:c.1477_1497dup, XM_017020247.2:c.1477_1497dup, XM_017020247.1:c.1477_1497dup, NM_001304447.2:c.1477_1497dup, NM_001304447.1:c.1477_1497dup, XM_047429913.1:c.1177_1197dup, NP_055468.2:p.Arg493_Gly499dup, XP_016875739.1:p.Arg393_Gly399dup, XP_016875735.1:p.Arg493_Gly499dup, XP_016875740.1:p.Arg393_Gly399dup, XP_016875733.1:p.Arg493_Gly499dup, XP_016875737.1:p.Arg493_Gly499dup, XP_016875732.1:p.Arg493_Gly499dup, XP_016875741.1:p.Arg393_Gly399dup, XP_016875734.1:p.Arg493_Gly499dup, XP_016875736.1:p.Arg493_Gly499dup, NP_001291376.1:p.Arg493_Gly499dup, XP_047285869.1:p.Arg393_Gly399dup

Select item 14827826314.

rs1482782631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:108224781 (GRCh38)
12:108618558 (GRCh37)
Canonical SPDI:: NC_000012.12:108224780:A:C,NC_000012.12:108224780:A:G
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.108224781A>C, NC_000012.12:g.108224781A>G, NC_000012.11:g.108618558A>C, NC_000012.11:g.108618558A>G, NM_014653.4:c.725A>C, NM_014653.4:c.725A>G, NM_014653.3:c.725A>C, NM_014653.3:c.725A>G, NM_014653.2:c.725A>C, NM_014653.2:c.725A>G, XM_017020250.3:c.425A>C, XM_017020250.3:c.425A>G, XM_017020250.2:c.425A>C, XM_017020250.2:c.425A>G, XM_017020250.1:c.425A>C, XM_017020250.1:c.425A>G, XM_017020246.3:c.725A>C, XM_017020246.3:c.725A>G, XM_017020246.2:c.725A>C, XM_017020246.2:c.725A>G, XM_017020246.1:c.725A>C, XM_017020246.1:c.725A>G, XM_017020251.3:c.425A>C, XM_017020251.3:c.425A>G, XM_017020251.2:c.425A>C, XM_017020251.2:c.425A>G, XM_017020251.1:c.425A>C, XM_017020251.1:c.425A>G, XM_017020244.2:c.725A>C, XM_017020244.2:c.725A>G, XM_017020244.1:c.725A>C, XM_017020244.1:c.725A>G, XM_017020248.2:c.725A>C, XM_017020248.2:c.725A>G, XM_017020248.1:c.725A>C, XM_017020248.1:c.725A>G, XM_017020243.2:c.725A>C, XM_017020243.2:c.725A>G, XM_017020243.1:c.725A>C, XM_017020243.1:c.725A>G, XM_017020252.2:c.425A>C, XM_017020252.2:c.425A>G, XM_017020252.1:c.425A>C, XM_017020252.1:c.425A>G, XM_017020245.2:c.725A>C, XM_017020245.2:c.725A>G, XM_017020245.1:c.725A>C, XM_017020245.1:c.725A>G, XM_017020247.2:c.725A>C, XM_017020247.2:c.725A>G, XM_017020247.1:c.725A>C, XM_017020247.1:c.725A>G, NM_001304447.2:c.725A>C, NM_001304447.2:c.725A>G, NM_001304447.1:c.725A>C, NM_001304447.1:c.725A>G, XM_047429913.1:c.425A>C, XM_047429913.1:c.425A>G, XM_047429914.1:c.725A>C, XM_047429914.1:c.725A>G, NP_055468.2:p.Asn242Thr, NP_055468.2:p.Asn242Ser, XP_016875739.1:p.Asn142Thr, XP_016875739.1:p.Asn142Ser, XP_016875735.1:p.Asn242Thr, XP_016875735.1:p.Asn242Ser, XP_016875740.1:p.Asn142Thr, XP_016875740.1:p.Asn142Ser, XP_016875733.1:p.Asn242Thr, XP_016875733.1:p.Asn242Ser, XP_016875737.1:p.Asn242Thr, XP_016875737.1:p.Asn242Ser, XP_016875732.1:p.Asn242Thr, XP_016875732.1:p.Asn242Ser, XP_016875741.1:p.Asn142Thr, XP_016875741.1:p.Asn142Ser, XP_016875734.1:p.Asn242Thr, XP_016875734.1:p.Asn242Ser, XP_016875736.1:p.Asn242Thr, XP_016875736.1:p.Asn242Ser, NP_001291376.1:p.Asn242Thr, NP_001291376.1:p.Asn242Ser, XP_047285869.1:p.Asn142Thr, XP_047285869.1:p.Asn142Ser, XP_047285870.1:p.Asn242Thr, XP_047285870.1:p.Asn242Ser

Select item 14817640115.

rs1481764011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108195838 (GRCh38)
12:108589615 (GRCh37)
Canonical SPDI:: NC_000012.12:108195837:C:T
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.108195838C>T, NC_000012.11:g.108589615C>T, NM_014653.4:c.6C>T, NM_014653.3:c.6C>T, NM_014653.2:c.6C>T, XM_017020250.3:c.6C>T, XM_017020250.2:c.6C>T, XM_017020250.1:c.6C>T, XM_017020246.3:c.6C>T, XM_017020246.2:c.6C>T, XM_017020246.1:c.6C>T, XM_017020251.3:c.6C>T, XM_017020251.2:c.6C>T, XM_017020251.1:c.6C>T, XM_017020244.2:c.6C>T, XM_017020244.1:c.6C>T, XM_017020248.2:c.6C>T, XM_017020248.1:c.6C>T, XM_017020243.2:c.6C>T, XM_017020243.1:c.6C>T, XM_017020252.2:c.6C>T, XM_017020252.1:c.6C>T, XM_017020245.2:c.6C>T, XM_017020245.1:c.6C>T, XM_017020247.2:c.6C>T, XM_017020247.1:c.6C>T, NM_001304447.2:c.6C>T, NM_001304447.1:c.6C>T, XM_047429913.1:c.6C>T, XM_047429914.1:c.6C>T

Select item 14779328426.

rs1477932842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:108248269 (GRCh38)
12:108642046 (GRCh37)
Canonical SPDI:: NC_000012.12:108248268:T:C
Gene:: WSCD2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.108248269T>C, NC_000012.11:g.108642046T>C, NM_014653.4:c.1624T>C, NM_014653.3:c.1624T>C, NM_014653.2:c.1624T>C, XM_017020250.3:c.1324T>C, XM_017020250.2:c.1324T>C, XM_017020250.1:c.1324T>C, XM_017020246.3:c.1624T>C, XM_017020246.2:c.1624T>C, XM_017020246.1:c.1624T>C, XM_017020251.3:c.1324T>C, XM_017020251.2:c.1324T>C, XM_017020251.1:c.1324T>C, XM_017020244.2:c.1624T>C, XM_017020244.1:c.1624T>C, XM_017020248.2:c.1624T>C, XM_017020248.1:c.1624T>C, XM_017020243.2:c.1624T>C, XM_017020243.1:c.1624T>C, XM_017020252.2:c.1324T>C, XM_017020252.1:c.1324T>C, XM_017020245.2:c.1624T>C, XM_017020245.1:c.1624T>C, XM_017020247.2:c.1624T>C, XM_017020247.1:c.1624T>C, NM_001304447.2:c.1624T>C, NM_001304447.1:c.1624T>C, XM_047429913.1:c.1324T>C, NP_055468.2:p.Tyr542His, XP_016875739.1:p.Tyr442His, XP_016875735.1:p.Tyr542His, XP_016875740.1:p.Tyr442His, XP_016875733.1:p.Tyr542His, XP_016875737.1:p.Tyr542His, XP_016875732.1:p.Tyr542His, XP_016875741.1:p.Tyr442His, XP_016875734.1:p.Tyr542His, XP_016875736.1:p.Tyr542His, NP_001291376.1:p.Tyr542His, XP_047285869.1:p.Tyr442His

Select item 14764596747.

rs1476459674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:108232895 (GRCh38)
12:108626672 (GRCh37)
Canonical SPDI:: NC_000012.12:108232894:G:C
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108232895G>C, NC_000012.11:g.108626672G>C, NM_014653.4:c.1144G>C, NM_014653.3:c.1144G>C, NM_014653.2:c.1144G>C, XM_017020250.3:c.844G>C, XM_017020250.2:c.844G>C, XM_017020250.1:c.844G>C, XM_017020246.3:c.1144G>C, XM_017020246.2:c.1144G>C, XM_017020246.1:c.1144G>C, XM_017020251.3:c.844G>C, XM_017020251.2:c.844G>C, XM_017020251.1:c.844G>C, XM_017020244.2:c.1144G>C, XM_017020244.1:c.1144G>C, XM_017020248.2:c.1144G>C, XM_017020248.1:c.1144G>C, XM_017020243.2:c.1144G>C, XM_017020243.1:c.1144G>C, XM_017020252.2:c.844G>C, XM_017020252.1:c.844G>C, XM_017020245.2:c.1144G>C, XM_017020245.1:c.1144G>C, XM_017020247.2:c.1144G>C, XM_017020247.1:c.1144G>C, NM_001304447.2:c.1144G>C, NM_001304447.1:c.1144G>C, XM_047429913.1:c.844G>C, XM_047429914.1:c.1144G>C, NP_055468.2:p.Gly382Arg, XP_016875739.1:p.Gly282Arg, XP_016875735.1:p.Gly382Arg, XP_016875740.1:p.Gly282Arg, XP_016875733.1:p.Gly382Arg, XP_016875737.1:p.Gly382Arg, XP_016875732.1:p.Gly382Arg, XP_016875741.1:p.Gly282Arg, XP_016875734.1:p.Gly382Arg, XP_016875736.1:p.Gly382Arg, NP_001291376.1:p.Gly382Arg, XP_047285869.1:p.Gly282Arg, XP_047285870.1:p.Gly382Arg

Select item 14730024048.

rs1473002404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108206289 (GRCh38)
12:108600066 (GRCh37)
Canonical SPDI:: NC_000012.12:108206288:C:T
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000012.12:g.108206289C>T, NC_000012.11:g.108600066C>T, NM_014653.4:c.383C>T, NM_014653.3:c.383C>T, NM_014653.2:c.383C>T, XM_017020246.3:c.383C>T, XM_017020246.2:c.383C>T, XM_017020246.1:c.383C>T, XM_017020244.2:c.383C>T, XM_017020244.1:c.383C>T, XM_017020248.2:c.383C>T, XM_017020248.1:c.383C>T, XM_017020243.2:c.383C>T, XM_017020243.1:c.383C>T, XM_017020245.2:c.383C>T, XM_017020245.1:c.383C>T, XM_017020247.2:c.383C>T, XM_017020247.1:c.383C>T, NM_001304447.2:c.383C>T, NM_001304447.1:c.383C>T, XM_047429914.1:c.383C>T, NP_055468.2:p.Ala128Val, XP_016875735.1:p.Ala128Val, XP_016875733.1:p.Ala128Val, XP_016875737.1:p.Ala128Val, XP_016875732.1:p.Ala128Val, XP_016875734.1:p.Ala128Val, XP_016875736.1:p.Ala128Val, NP_001291376.1:p.Ala128Val, XP_047285870.1:p.Ala128Val

Select item 14704238929.

rs1470423892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:108195994 (GRCh38)
12:108589771 (GRCh37)
Canonical SPDI:: NC_000012.12:108195993:T:C
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.108195994T>C, NC_000012.11:g.108589771T>C, NM_014653.4:c.162T>C, NM_014653.3:c.162T>C, NM_014653.2:c.162T>C, XM_017020250.3:c.162T>C, XM_017020250.2:c.162T>C, XM_017020250.1:c.162T>C, XM_017020246.3:c.162T>C, XM_017020246.2:c.162T>C, XM_017020246.1:c.162T>C, XM_017020251.3:c.162T>C, XM_017020251.2:c.162T>C, XM_017020251.1:c.162T>C, XM_017020244.2:c.162T>C, XM_017020244.1:c.162T>C, XM_017020248.2:c.162T>C, XM_017020248.1:c.162T>C, XM_017020243.2:c.162T>C, XM_017020243.1:c.162T>C, XM_017020252.2:c.162T>C, XM_017020252.1:c.162T>C, XM_017020245.2:c.162T>C, XM_017020245.1:c.162T>C, XM_017020247.2:c.162T>C, XM_017020247.1:c.162T>C, NM_001304447.2:c.162T>C, NM_001304447.1:c.162T>C, XM_047429913.1:c.162T>C, XM_047429914.1:c.162T>C

Select item 146947110210.

rs1469471102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108210227 (GRCh38)
12:108604004 (GRCh37)
Canonical SPDI:: NC_000012.12:108210226:G:A
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.108210227G>A, NC_000012.11:g.108604004G>A, NM_014653.4:c.604G>A, NM_014653.3:c.604G>A, NM_014653.2:c.604G>A, XM_017020246.3:c.604G>A, XM_017020246.2:c.604G>A, XM_017020246.1:c.604G>A, XM_017020244.2:c.604G>A, XM_017020244.1:c.604G>A, XM_017020248.2:c.604G>A, XM_017020248.1:c.604G>A, XM_017020243.2:c.604G>A, XM_017020243.1:c.604G>A, XM_017020245.2:c.604G>A, XM_017020245.1:c.604G>A, XM_017020247.2:c.604G>A, XM_017020247.1:c.604G>A, NM_001304447.2:c.604G>A, NM_001304447.1:c.604G>A, XM_047429914.1:c.604G>A, NP_055468.2:p.Glu202Lys, XP_016875735.1:p.Glu202Lys, XP_016875733.1:p.Glu202Lys, XP_016875737.1:p.Glu202Lys, XP_016875732.1:p.Glu202Lys, XP_016875734.1:p.Glu202Lys, XP_016875736.1:p.Glu202Lys, NP_001291376.1:p.Glu202Lys, XP_047285870.1:p.Glu202Lys

Select item 146937123211.

rs1469371232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108210290 (GRCh38)
12:108604067 (GRCh37)
Canonical SPDI:: NC_000012.12:108210289:G:A
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108210290G>A, NC_000012.11:g.108604067G>A, NM_014653.4:c.667G>A, NM_014653.3:c.667G>A, NM_014653.2:c.667G>A, XM_017020246.3:c.667G>A, XM_017020246.2:c.667G>A, XM_017020246.1:c.667G>A, XM_017020244.2:c.667G>A, XM_017020244.1:c.667G>A, XM_017020248.2:c.667G>A, XM_017020248.1:c.667G>A, XM_017020243.2:c.667G>A, XM_017020243.1:c.667G>A, XM_017020245.2:c.667G>A, XM_017020245.1:c.667G>A, XM_017020247.2:c.667G>A, XM_017020247.1:c.667G>A, NM_001304447.2:c.667G>A, NM_001304447.1:c.667G>A, XM_047429914.1:c.667G>A, NP_055468.2:p.Glu223Lys, XP_016875735.1:p.Glu223Lys, XP_016875733.1:p.Glu223Lys, XP_016875737.1:p.Glu223Lys, XP_016875732.1:p.Glu223Lys, XP_016875734.1:p.Glu223Lys, XP_016875736.1:p.Glu223Lys, NP_001291376.1:p.Glu223Lys, XP_047285870.1:p.Glu223Lys

Select item 146742774212.

rs1467427742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108226992 (GRCh38)
12:108620769 (GRCh37)
Canonical SPDI:: NC_000012.12:108226991:G:A
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.108226992G>A, NC_000012.11:g.108620769G>A, NM_014653.4:c.807G>A, NM_014653.3:c.807G>A, NM_014653.2:c.807G>A, XM_017020250.3:c.507G>A, XM_017020250.2:c.507G>A, XM_017020250.1:c.507G>A, XM_017020246.3:c.807G>A, XM_017020246.2:c.807G>A, XM_017020246.1:c.807G>A, XM_017020251.3:c.507G>A, XM_017020251.2:c.507G>A, XM_017020251.1:c.507G>A, XM_017020244.2:c.807G>A, XM_017020244.1:c.807G>A, XM_017020248.2:c.807G>A, XM_017020248.1:c.807G>A, XM_017020243.2:c.807G>A, XM_017020243.1:c.807G>A, XM_017020252.2:c.507G>A, XM_017020252.1:c.507G>A, XM_017020245.2:c.807G>A, XM_017020245.1:c.807G>A, XM_017020247.2:c.807G>A, XM_017020247.1:c.807G>A, NM_001304447.2:c.807G>A, NM_001304447.1:c.807G>A, XM_047429913.1:c.507G>A, XM_047429914.1:c.807G>A

Select item 146598682913.

rs1465986829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:108240537 (GRCh38)
12:108634314 (GRCh37)
Canonical SPDI:: NC_000012.12:108240536:G:A,NC_000012.12:108240536:G:C
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.108240537G>A, NC_000012.12:g.108240537G>C, NC_000012.11:g.108634314G>A, NC_000012.11:g.108634314G>C, NM_014653.4:c.1338G>A, NM_014653.4:c.1338G>C, NM_014653.3:c.1338G>A, NM_014653.3:c.1338G>C, NM_014653.2:c.1338G>A, NM_014653.2:c.1338G>C, XM_017020250.3:c.1038G>A, XM_017020250.3:c.1038G>C, XM_017020250.2:c.1038G>A, XM_017020250.2:c.1038G>C, XM_017020250.1:c.1038G>A, XM_017020250.1:c.1038G>C, XM_017020246.3:c.1338G>A, XM_017020246.3:c.1338G>C, XM_017020246.2:c.1338G>A, XM_017020246.2:c.1338G>C, XM_017020246.1:c.1338G>A, XM_017020246.1:c.1338G>C, XM_017020251.3:c.1038G>A, XM_017020251.3:c.1038G>C, XM_017020251.2:c.1038G>A, XM_017020251.2:c.1038G>C, XM_017020251.1:c.1038G>A, XM_017020251.1:c.1038G>C, XM_017020244.2:c.1338G>A, XM_017020244.2:c.1338G>C, XM_017020244.1:c.1338G>A, XM_017020244.1:c.1338G>C, XM_017020248.2:c.1338G>A, XM_017020248.2:c.1338G>C, XM_017020248.1:c.1338G>A, XM_017020248.1:c.1338G>C, XM_017020243.2:c.1338G>A, XM_017020243.2:c.1338G>C, XM_017020243.1:c.1338G>A, XM_017020243.1:c.1338G>C, XM_017020252.2:c.1038G>A, XM_017020252.2:c.1038G>C, XM_017020252.1:c.1038G>A, XM_017020252.1:c.1038G>C, XM_017020245.2:c.1338G>A, XM_017020245.2:c.1338G>C, XM_017020245.1:c.1338G>A, XM_017020245.1:c.1338G>C, XM_017020247.2:c.1338G>A, XM_017020247.2:c.1338G>C, XM_017020247.1:c.1338G>A, XM_017020247.1:c.1338G>C, NM_001304447.2:c.1338G>A, NM_001304447.2:c.1338G>C, NM_001304447.1:c.1338G>A, NM_001304447.1:c.1338G>C, XM_047429913.1:c.1038G>A, XM_047429913.1:c.1038G>C, XM_047429914.1:c.1338G>A, XM_047429914.1:c.1338G>C, NP_055468.2:p.Lys446Asn, XP_016875739.1:p.Lys346Asn, XP_016875735.1:p.Lys446Asn, XP_016875740.1:p.Lys346Asn, XP_016875733.1:p.Lys446Asn, XP_016875737.1:p.Lys446Asn, XP_016875732.1:p.Lys446Asn, XP_016875741.1:p.Lys346Asn, XP_016875734.1:p.Lys446Asn, XP_016875736.1:p.Lys446Asn, NP_001291376.1:p.Lys446Asn, XP_047285869.1:p.Lys346Asn, XP_047285870.1:p.Lys446Asn

Select item 146592817614.

rs1465928176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108248140 (GRCh38)
12:108641917 (GRCh37)
Canonical SPDI:: NC_000012.12:108248139:G:A
Gene:: WSCD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108248140G>A, NC_000012.11:g.108641917G>A, NM_014653.4:c.1495G>A, NM_014653.3:c.1495G>A, NM_014653.2:c.1495G>A, XM_017020250.3:c.1195G>A, XM_017020250.2:c.1195G>A, XM_017020250.1:c.1195G>A, XM_017020246.3:c.1495G>A, XM_017020246.2:c.1495G>A, XM_017020246.1:c.1495G>A, XM_017020251.3:c.1195G>A, XM_017020251.2:c.1195G>A, XM_017020251.1:c.1195G>A, XM_017020244.2:c.1495G>A, XM_017020244.1:c.1495G>A, XM_017020248.2:c.1495G>A, XM_017020248.1:c.1495G>A, XM_017020243.2:c.1495G>A, XM_017020243.1:c.1495G>A, XM_017020252.2:c.1195G>A, XM_017020252.1:c.1195G>A, XM_017020245.2:c.1495G>A, XM_017020245.1:c.1495G>A, XM_017020247.2:c.1495G>A, XM_017020247.1:c.1495G>A, NM_001304447.2:c.1495G>A, NM_001304447.1:c.1495G>A, XM_047429913.1:c.1195G>A, NP_055468.2:p.Gly499Ser, XP_016875739.1:p.Gly399Ser, XP_016875735.1:p.Gly499Ser, XP_016875740.1:p.Gly399Ser, XP_016875733.1:p.Gly499Ser, XP_016875737.1:p.Gly499Ser, XP_016875732.1:p.Gly499Ser, XP_016875741.1:p.Gly399Ser, XP_016875734.1:p.Gly499Ser, XP_016875736.1:p.Gly499Ser, NP_001291376.1:p.Gly499Ser, XP_047285869.1:p.Gly399Ser

Select item 146509553115.

rs1465095531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108248071 (GRCh38)
12:108641848 (GRCh37)
Canonical SPDI:: NC_000012.12:108248070:C:T
Gene:: WSCD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108248071C>T, NC_000012.11:g.108641848C>T, NM_014653.4:c.1426C>T, NM_014653.3:c.1426C>T, NM_014653.2:c.1426C>T, XM_017020250.3:c.1126C>T, XM_017020250.2:c.1126C>T, XM_017020250.1:c.1126C>T, XM_017020246.3:c.1426C>T, XM_017020246.2:c.1426C>T, XM_017020246.1:c.1426C>T, XM_017020251.3:c.1126C>T, XM_017020251.2:c.1126C>T, XM_017020251.1:c.1126C>T, XM_017020244.2:c.1426C>T, XM_017020244.1:c.1426C>T, XM_017020248.2:c.1426C>T, XM_017020248.1:c.1426C>T, XM_017020243.2:c.1426C>T, XM_017020243.1:c.1426C>T, XM_017020252.2:c.1126C>T, XM_017020252.1:c.1126C>T, XM_017020245.2:c.1426C>T, XM_017020245.1:c.1426C>T, XM_017020247.2:c.1426C>T, XM_017020247.1:c.1426C>T, NM_001304447.2:c.1426C>T, NM_001304447.1:c.1426C>T, XM_047429913.1:c.1126C>T

Select item 146471663716.

rs1464716637 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACCCCTACAAAGCCCTCATGGCTGAGTTCAA [Show Flanks]
Chromosome:: 12:108240456 (GRCh38)
12:108634234 (GRCh37)
Canonical SPDI:: NC_000012.12:108240456:AACCCCTACAAAGCCCTCATGGCTGAGTTCAA:AACCCCTACAAAGCCCTCATGGCTGAGTTCAAACCCCTACAAAGCCCTCATGGCTGAGTTCAA
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: stop_gained,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,inframe_indel
Validated:: by frequency,by cluster
MAF:: AACCCCTACAAAGCCCTCATGGCTGAGTTCA=0.000004/1 (GnomAD_exomes)
AACCCCTACAAAGCCCTCATGGCTGAGTTCA=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.108240458_108240488dup, NC_000012.11:g.108634235_108634265dup, NM_014653.4:c.1259_1289dup, NM_014653.3:c.1259_1289dup, NM_014653.2:c.1259_1289dup, XM_017020250.3:c.959_989dup, XM_017020250.2:c.959_989dup, XM_017020250.1:c.959_989dup, XM_017020246.3:c.1259_1289dup, XM_017020246.2:c.1259_1289dup, XM_017020246.1:c.1259_1289dup, XM_017020251.3:c.959_989dup, XM_017020251.2:c.959_989dup, XM_017020251.1:c.959_989dup, XM_017020244.2:c.1259_1289dup, XM_017020244.1:c.1259_1289dup, XM_017020248.2:c.1259_1289dup, XM_017020248.1:c.1259_1289dup, XM_017020243.2:c.1259_1289dup, XM_017020243.1:c.1259_1289dup, XM_017020252.2:c.959_989dup, XM_017020252.1:c.959_989dup, XM_017020245.2:c.1259_1289dup, XM_017020245.1:c.1259_1289dup, XM_017020247.2:c.1259_1289dup, XM_017020247.1:c.1259_1289dup, NM_001304447.2:c.1259_1289dup, NM_001304447.1:c.1259_1289dup, XM_047429913.1:c.959_989dup, XM_047429914.1:c.1259_1289dup, NP_055468.2:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, XP_016875739.1:p.Asn330delinsLysProLeuGlnSerProHisGlyTer, XP_016875735.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, XP_016875740.1:p.Asn330delinsLysProLeuGlnSerProHisGlyTer, XP_016875733.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, XP_016875737.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, XP_016875732.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, XP_016875741.1:p.Asn330delinsLysProLeuGlnSerProHisGlyTer, XP_016875734.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, XP_016875736.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, NP_001291376.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer, XP_047285869.1:p.Asn330delinsLysProLeuGlnSerProHisGlyTer, XP_047285870.1:p.Asn430delinsLysProLeuGlnSerProHisGlyTer

Select item 146146206217.

rs1461462062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108195969 (GRCh38)
12:108589746 (GRCh37)
Canonical SPDI:: NC_000012.12:108195968:C:T
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.108195969C>T, NC_000012.11:g.108589746C>T, NM_014653.4:c.137C>T, NM_014653.3:c.137C>T, NM_014653.2:c.137C>T, XM_017020250.3:c.137C>T, XM_017020250.2:c.137C>T, XM_017020250.1:c.137C>T, XM_017020246.3:c.137C>T, XM_017020246.2:c.137C>T, XM_017020246.1:c.137C>T, XM_017020251.3:c.137C>T, XM_017020251.2:c.137C>T, XM_017020251.1:c.137C>T, XM_017020244.2:c.137C>T, XM_017020244.1:c.137C>T, XM_017020248.2:c.137C>T, XM_017020248.1:c.137C>T, XM_017020243.2:c.137C>T, XM_017020243.1:c.137C>T, XM_017020252.2:c.137C>T, XM_017020252.1:c.137C>T, XM_017020245.2:c.137C>T, XM_017020245.1:c.137C>T, XM_017020247.2:c.137C>T, XM_017020247.1:c.137C>T, NM_001304447.2:c.137C>T, NM_001304447.1:c.137C>T, XM_047429913.1:c.137C>T, XM_047429914.1:c.137C>T, NP_055468.2:p.Ser46Leu, XP_016875739.1:p.Ser46Leu, XP_016875735.1:p.Ser46Leu, XP_016875740.1:p.Ser46Leu, XP_016875733.1:p.Ser46Leu, XP_016875737.1:p.Ser46Leu, XP_016875732.1:p.Ser46Leu, XP_016875741.1:p.Ser46Leu, XP_016875734.1:p.Ser46Leu, XP_016875736.1:p.Ser46Leu, NP_001291376.1:p.Ser46Leu, XP_047285869.1:p.Ser46Leu, XP_047285870.1:p.Ser46Leu

Select item 146061705818.

rs1460617058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:108240459 (GRCh38)
12:108634236 (GRCh37)
Canonical SPDI:: NC_000012.12:108240458:C:T
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.108240459C>T, NC_000012.11:g.108634236C>T, NM_014653.4:c.1260C>T, NM_014653.3:c.1260C>T, NM_014653.2:c.1260C>T, XM_017020250.3:c.960C>T, XM_017020250.2:c.960C>T, XM_017020250.1:c.960C>T, XM_017020246.3:c.1260C>T, XM_017020246.2:c.1260C>T, XM_017020246.1:c.1260C>T, XM_017020251.3:c.960C>T, XM_017020251.2:c.960C>T, XM_017020251.1:c.960C>T, XM_017020244.2:c.1260C>T, XM_017020244.1:c.1260C>T, XM_017020248.2:c.1260C>T, XM_017020248.1:c.1260C>T, XM_017020243.2:c.1260C>T, XM_017020243.1:c.1260C>T, XM_017020252.2:c.960C>T, XM_017020252.1:c.960C>T, XM_017020245.2:c.1260C>T, XM_017020245.1:c.1260C>T, XM_017020247.2:c.1260C>T, XM_017020247.1:c.1260C>T, NM_001304447.2:c.1260C>T, NM_001304447.1:c.1260C>T, XM_047429913.1:c.960C>T, XM_047429914.1:c.1260C>T

Select item 145950159119.

rs1459501591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:108240434 (GRCh38)
12:108634211 (GRCh37)
Canonical SPDI:: NC_000012.12:108240433:A:C,NC_000012.12:108240433:A:G
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
C=0.001638/3 (Korea1K)
HGVS:: NC_000012.12:g.108240434A>C, NC_000012.12:g.108240434A>G, NC_000012.11:g.108634211A>C, NC_000012.11:g.108634211A>G, NM_014653.4:c.1235A>C, NM_014653.4:c.1235A>G, NM_014653.3:c.1235A>C, NM_014653.3:c.1235A>G, NM_014653.2:c.1235A>C, NM_014653.2:c.1235A>G, XM_017020250.3:c.935A>C, XM_017020250.3:c.935A>G, XM_017020250.2:c.935A>C, XM_017020250.2:c.935A>G, XM_017020250.1:c.935A>C, XM_017020250.1:c.935A>G, XM_017020246.3:c.1235A>C, XM_017020246.3:c.1235A>G, XM_017020246.2:c.1235A>C, XM_017020246.2:c.1235A>G, XM_017020246.1:c.1235A>C, XM_017020246.1:c.1235A>G, XM_017020251.3:c.935A>C, XM_017020251.3:c.935A>G, XM_017020251.2:c.935A>C, XM_017020251.2:c.935A>G, XM_017020251.1:c.935A>C, XM_017020251.1:c.935A>G, XM_017020244.2:c.1235A>C, XM_017020244.2:c.1235A>G, XM_017020244.1:c.1235A>C, XM_017020244.1:c.1235A>G, XM_017020248.2:c.1235A>C, XM_017020248.2:c.1235A>G, XM_017020248.1:c.1235A>C, XM_017020248.1:c.1235A>G, XM_017020243.2:c.1235A>C, XM_017020243.2:c.1235A>G, XM_017020243.1:c.1235A>C, XM_017020243.1:c.1235A>G, XM_017020252.2:c.935A>C, XM_017020252.2:c.935A>G, XM_017020252.1:c.935A>C, XM_017020252.1:c.935A>G, XM_017020245.2:c.1235A>C, XM_017020245.2:c.1235A>G, XM_017020245.1:c.1235A>C, XM_017020245.1:c.1235A>G, XM_017020247.2:c.1235A>C, XM_017020247.2:c.1235A>G, XM_017020247.1:c.1235A>C, XM_017020247.1:c.1235A>G, NM_001304447.2:c.1235A>C, NM_001304447.2:c.1235A>G, NM_001304447.1:c.1235A>C, NM_001304447.1:c.1235A>G, XM_047429913.1:c.935A>C, XM_047429913.1:c.935A>G, XM_047429914.1:c.1235A>C, XM_047429914.1:c.1235A>G, XR_007063583.1:n.20T>G, XR_007063583.1:n.20T>C, NP_055468.2:p.Asp412Ala, NP_055468.2:p.Asp412Gly, XP_016875739.1:p.Asp312Ala, XP_016875739.1:p.Asp312Gly, XP_016875735.1:p.Asp412Ala, XP_016875735.1:p.Asp412Gly, XP_016875740.1:p.Asp312Ala, XP_016875740.1:p.Asp312Gly, XP_016875733.1:p.Asp412Ala, XP_016875733.1:p.Asp412Gly, XP_016875737.1:p.Asp412Ala, XP_016875737.1:p.Asp412Gly, XP_016875732.1:p.Asp412Ala, XP_016875732.1:p.Asp412Gly, XP_016875741.1:p.Asp312Ala, XP_016875741.1:p.Asp312Gly, XP_016875734.1:p.Asp412Ala, XP_016875734.1:p.Asp412Gly, XP_016875736.1:p.Asp412Ala, XP_016875736.1:p.Asp412Gly, NP_001291376.1:p.Asp412Ala, NP_001291376.1:p.Asp412Gly, XP_047285869.1:p.Asp312Ala, XP_047285869.1:p.Asp312Gly, XP_047285870.1:p.Asp412Ala, XP_047285870.1:p.Asp412Gly

Select item 145499303020.

rs1454993030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:108206387 (GRCh38)
12:108600164 (GRCh37)
Canonical SPDI:: NC_000012.12:108206386:G:A
Gene:: WSCD2 (Varview), LOC124903077 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.108206387G>A, NC_000012.11:g.108600164G>A, NM_014653.4:c.481G>A, NM_014653.3:c.481G>A, NM_014653.2:c.481G>A, XM_017020246.3:c.481G>A, XM_017020246.2:c.481G>A, XM_017020246.1:c.481G>A, XM_017020244.2:c.481G>A, XM_017020244.1:c.481G>A, XM_017020248.2:c.481G>A, XM_017020248.1:c.481G>A, XM_017020243.2:c.481G>A, XM_017020243.1:c.481G>A, XM_017020245.2:c.481G>A, XM_017020245.1:c.481G>A, XM_017020247.2:c.481G>A, XM_017020247.1:c.481G>A, NM_001304447.2:c.481G>A, NM_001304447.1:c.481G>A, XM_047429914.1:c.481G>A, NP_055468.2:p.Asp161Asn, XP_016875735.1:p.Asp161Asn, XP_016875733.1:p.Asp161Asn, XP_016875737.1:p.Asp161Asn, XP_016875732.1:p.Asp161Asn, XP_016875734.1:p.Asp161Asn, XP_016875736.1:p.Asp161Asn, NP_001291376.1:p.Asp161Asn, XP_047285870.1:p.Asp161Asn

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