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rs258322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 3 2x increased risk of Melanoma
Make rs258322(C;C)
Make rs258322(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89689495
GeneCDK10
is asnp
is mentioned by
dbSNPrs258322
ebirs258322
HLIrs258322
Exacrs258322
Varsomers258322
Maprs258322
PheGenIrs258322
hapmaprs258322
1000 genomesrs258322
hgdprs258322
ensemblrs258322
gopubmedrs258322
geneviewrs258322
scholarrs258322
googlers258322
pharmgkbrs258322
gwascentralrs258322
openSNPrs258322
23andMers258322
23andMe allrs258322
SNP Nexus

SNPshotrs258322
SNPdbers258322
MSV3drs258322
GWAS Ctlgrs258322
GMAF0.2677
Max Magnitude3
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 18483556OA-icon.png]
Trait Black vs. red hair color
Title A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation
Risk Allele T
P-val 1.9999999999999999E-23
Odds Ratio 0.36 [0.28-0.44] increase in hair color score
GWAS snp
PMID [PMID 19578364OA-icon.png]
Trait Melanoma
Title Genome-wide association study identifies three loci associated with melanoma risk
Risk Allele A
P-val 3E-27
Odds Ratio 1.67 [1.52-1.83]
OMIM606933
DescTYROSINASE; TYR
Variant
Relatedalso
OMIM155601
Desc
Variant
Relatedalso
OMIM601800
Desc
Variant
Relatedalso
OMIM613099
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21983787OA-icon.png]
Trait
Title Genome-wide association study identifies three new melanoma susceptibility loci.
Risk Allele A
P-val 3E-27
Odds Ratio 1.7000 None


GET Evidence
rs258322
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.828125
summary



This SNP occurs within CDK10, (cyclin-dependent kinase 10). The T variant has been associated with increased risk of Melanoma (OR=1.67, 95%CI 1.52-1.83) [PMID 19578364OA-icon.png], (OR=2.26, 95%CI 1.32–3.88) [PMID 23393597OA-icon.png].

References[edit]

[PMID 19578364OA-icon.png] Genome-wide association study identifies three loci associated with melanoma risk.

23andMe blog rs258322 A (T in dbSNP): OR 1.67 for Melanoma


[PMID 23393597OA-icon.png] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study


[PMID 19340012OA-icon.png] Genome-wide association study of tanning phenotype in a population of European ancestry.


[PMID 19686382OA-icon.png] Genome-wide associations studies for melanoma and nevi.

GWAS snp
PMID [PMID 24980573OA-icon.png]
Trait Melanoma
Title Identification of a melanoma susceptibility locus and somatic mutation in TET2.
Risk Allele A
P-val 2E-9
Odds Ratio 1.50 [1.31-1.71]