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rs4911414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 normal
(G;T) 2 2-4x higher risk of sun sensitivity if part of risk haplotype
(T;T) 2 2-4x higher risk of sun sensitivity if part of risk haplotype
ReferenceGRCh38 38.1/141
Chromosome20
Position34141638
is asnp
is mentioned by
dbSNPrs4911414
ebirs4911414
HLIrs4911414
Exacrs4911414
Varsomers4911414
Maprs4911414
PheGenIrs4911414
hapmaprs4911414
1000 genomesrs4911414
hgdprs4911414
ensemblrs4911414
gopubmedrs4911414
geneviewrs4911414
scholarrs4911414
googlers4911414
pharmgkbrs4911414
gwascentralrs4911414
openSNPrs4911414
23andMers4911414
23andMe allrs4911414
SNP Nexus

SNPshotrs4911414
SNPdbers4911414
MSV3drs4911414
GWAS Ctlgrs4911414
GMAF0.2305
Max Magnitude2
? (G;G) (G;T) (T;T) 28
rs4911414 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
[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 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.


GET Evidence
rs4911414
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.859375
summary



GWAS snp
PMID [PMID 23548203OA-icon.png]
Trait Tanning
Title Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Risk Allele G
P-val 4E-9
Odds Ratio .07 [0.050-0.090] unit decrease


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