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rs12821256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4x more likely to have blond hair
(C;T) 2x more likely to have blond hair
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome12
Position88934558
GeneKITLG
is asnp
is mentioned by
dbSNPrs12821256
ebirs12821256
HLIrs12821256
Exacrs12821256
Varsomers12821256
Maprs12821256
PheGenIrs12821256
hapmaprs12821256
1000 genomesrs12821256
hgdprs12821256
ensemblrs12821256
gopubmedrs12821256
geneviewrs12821256
scholarrs12821256
googlers12821256
pharmgkbrs12821256
gwascentralrs12821256
openSNPrs12821256
23andMers12821256
23andMe allrs12821256
SNP Nexus

SNPshotrs12821256
SNPdbers12821256
MSV3drs12821256
GWAS Ctlgrs12821256
GMAF0.05372
Max Magnitude0
? (C;C) (C;T) (T;T) 28

A 2007 study based on the Icelanders and Dutch concluded that individuals with an rs12821256(C) allele were ~2x fold more likely to have blond than brown hair color. The specific odds ratio claimed per (C) allele is 2.32, p = 5.5 x 10-14.[PMID 17952075]

[PMID 24880339OA-icon.png] A molecular basis for classic blond hair color in Europeans: This article shows how changing just rs12821256 from (T) to (C) in a transgenic mouse leads to lighter hair color.

GWAS
SNP rs12821256
PubMedID [PMID 17952075]
Condition Blond vs. brown hair
Gene KITLG
Risk Allele C
pValue 2.00E-014
OR 2.32
95% CI 1.86-2.92
OMIM611664
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7
Variant
Relatedalso
OMIM184745
DescKIT LIGAND; KITLG
Variant
Relatedalso
OMIM184745
Desc
Variant0001
Relatedalso
[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

[PMID 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.

[PMID 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.


GET Evidence
rs12821256
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0546875
summary



GWAS snp
PMID [PMID 23548203OA-icon.png]
Trait Hair color
Title Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Risk Allele C
P-val 7E-19
Odds Ratio .18 [0.14-0.22] unit increase


ClinVar
Risk rs12821256(C;C)
Alt rs12821256(C;C)
Reference rs12821256(T;T)
Significance Other
Disease Skin/hair/eye pigmentation
Variation info
Gene
CLNDBN Skin/hair/eye pigmentation, variation in, 7
Reversed 0
HGVS NC_000012.11:g.89328335T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013659.26,