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rs1015362

From SNPedia
(Redirected from Rs105362)

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.9 Probably tans instead of freckles and sunburns.
(A;G) 2 2-4x higher risk of sun sensitivity if part of risk haplotype.
(G;G) 2 2-4x higher risk of sun sensitivity if part of risk haplotype.
ReferenceGRCh38 38.1/142
Chromosome20
Position34150806
is asnp
is mentioned by
dbSNPrs1015362
ebirs1015362
HLIrs1015362
Exacrs1015362
Varsomers1015362
Maprs1015362
PheGenIrs1015362
hapmaprs1015362
1000 genomesrs1015362
hgdprs1015362
ensemblrs1015362
gopubmedrs1015362
geneviewrs1015362
scholarrs1015362
googlers1015362
pharmgkbrs1015362
gwascentralrs1015362
openSNPrs1015362
23andMers1015362
23andMe allrs1015362
SNP Nexus

SNPshotrs1015362
SNPdbers1015362
MSV3drs1015362
GWAS Ctlgrs1015362
GMAF0.3806
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs1015362 is a SNP near the ASIP (agouti signaling protein) gene on chromosome 20.

This SNP is one of a tightly-linked pair that increases the likelihood of an individual being prone to sun sensitivity, in other words, freckles and sunburn, based on a study of 6,000+ Caucasians (5,000+ Icelanders + 1,000+ Dutch). The odds ratios, presumably on a dominant basis, and at least in the largest population (Icelanders) for "freckles and burns vs. no freckles and tans" for the haplotype pair rs1015362(G) - rs4911414(T) is 3.91 (CI: 2.54-6.03) for males and 2.42 (CI: 1.52-3.86) for females, with an overall p=0.051.[PMID 18488028]

Based on a study by the same authors of 4,000+ skin cancer patients, this haplotype was seen to confer significant increased risk for cutaneous malignant melanoma (odds ratio 1.45, p = 1.2 x 10-9) as well as basal cell carcinoma (odds ratio 1.33, p = 1.2 x 10-6).[PMID 18488027]

GWAS
SNP rs1015362,rs4911414
PubMedID [PMID 18488028]
Condition Skin sensitivity to sun
Gene ASIP
Risk Allele T
pValue 2.00E-024
OR 1.76
95% CI 1.49-2.08


[PMID 19384953OA-icon.png] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians

OMIM612263
DescMELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7
Variant
Relatedalso
OMIM611742
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9
Variant
Relatedalso
OMIM600201
DescAGOUTI SIGNALING PROTEIN; ASIP
Variant
Relatedalso


Influences appearance gnxp




[PMID 21221757OA-icon.png] ASIP genetic variants and the number of non-melanoma skin cancers

[PMID 19995372OA-icon.png] Melanoma susceptibility variants on chromosome 20q11.22 are associated with pigmentary traits and the risk of nonmelanoma skin cancer.

[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


GET Evidence
rs1015362
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.382812
summary



[PMID 22628150] Variants at chromosome 20 (ASIP locus) and melanoma risk.