Have questions? Visit https://www.reddit.com/r/SNPedia

rs12896399

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) Light hair color
Make rs12896399(G;T)
Make rs12896399(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position92307319
GeneLOC105370627
is asnp
is mentioned by
dbSNPrs12896399
dbSNP (old)rs12896399
ClinGenrs12896399
ebirs12896399
HLIrs12896399
Exacrs12896399
Gnomadrs12896399
Varsomers12896399
Maprs12896399
PheGenIrs12896399
Biobankrs12896399
1000 genomesrs12896399
hgdprs12896399
ensemblrs12896399
gopubmedrs12896399
geneviewrs12896399
scholarrs12896399
googlers12896399
pharmgkbrs12896399
gwascentralrs12896399
openSNPrs12896399
23andMers12896399
23andMe allrs12896399
SNP Nexus

SNPshotrs12896399
SNPdbers12896399
MSV3drs12896399
GWAS Ctlgrs12896399
GMAF0.2893
Max Magnitude
? (G;G) (G;T) (T;T) 28

10.1371/journal.pgen.1000074 associated with hair color rs12896399 rs12203592

10.1371/journal.pgen.1000993

GWAS snp
PMID [PMID 18483556OA-icon.png]
Trait Black vs. blond hair color
Title A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation
Risk Allele G
P-val 7.9999999999999993E-21
Odds Ratio 0.18 [0.14-0.22] increase in hair color score
GWAS snp
PMID [PMID 17952075]
Trait Blond vs. brown hair
Title Genetic determinants of hair, eye and skin pigmentation in Europeans
Risk Allele T
P-val 9.9999999999999997E-49
Odds Ratio 2.56 [2.12-3.09]
OMIM210750
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6
Variant
Relatedalso
OMIM609840
DescSOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER
Variant
Relatedalso
GWAS snp
PMID [PMID 20585627OA-icon.png]
Trait Eye color
Title Web-based, participant-driven studies yield novel genetic associations for common traits
Risk Allele G
P-val 2E-23
Odds Ratio 1.73 [NR]
OMIM609840
Desc
Variant0001
Relatedalso
[PMID 19609347OA-icon.png] A genome-wide association study of hypertension and blood pressure in African Americans.


[PMID 19884608OA-icon.png] Interactive effect of stressful life events and the serotonin transporter 5-HTTLPR genotype on posttraumatic stress disorder diagnosis in 2 independent populations.


[PMID 20463881OA-icon.png] Digital quantification of human eye color highlights genetic association of three new loci.


GET Evidence
rs12896399
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.28125
summary



GWAS snp
PMID [PMID 23548203OA-icon.png]
Trait Eye color
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 3E-7
Odds Ratio .27 [0.17-0.37] unit decrease


[PMID 23771755OA-icon.png] Improved eye- and skin-color prediction based on 8 SNPs.


ClinVar
Risk rs12896399(T;T)
Alt rs12896399(T;T)
Reference Rs12896399(G;G)
Significance Other
Disease Skin/hair/eye pigmentation
Variation info
Gene LOC105370627
CLNDBN Skin/hair/eye pigmentation, variation in, 6
Reversed 0
HGVS NC_000014.8:g.92773663G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001485.5,