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rs1667394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.5 blond hair & blue eyes is 4x more likely
(G;G) 1.5 darker skin, eye and hair color is more likely
Make rs1667394(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position28285036
GeneHERC2
is asnp
is mentioned by
dbSNPrs1667394
ebirs1667394
HLIrs1667394
Exacrs1667394
Varsomers1667394
Maprs1667394
PheGenIrs1667394
hapmaprs1667394
1000 genomesrs1667394
hgdprs1667394
ensemblrs1667394
gopubmedrs1667394
geneviewrs1667394
scholarrs1667394
googlers1667394
pharmgkbrs1667394
gwascentralrs1667394
openSNPrs1667394
23andMers1667394
23andMe allrs1667394
SNP Nexus

SNPshotrs1667394
SNPdbers1667394
MSV3drs1667394
GWAS Ctlgrs1667394
GMAF0.4582
Max Magnitude1.5
? (A;A) (A;G) (G;G) 28
rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele [PMID 17952075]

rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele [PMID 17952075]

rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele [PMID 17952075]

For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06). 10.1371/journal.pgen.1000993

OMIM605837
DescHECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
Variant
Relatedalso
OMIM605837
Desc
Variant0001
Relatedalso
[PMID 18252221OA-icon.png] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.


[PMID 18252222OA-icon.png] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.


[PMID 18483556OA-icon.png] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.


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


GET Evidence
rs1667394
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.380952
summary



[PMID 23100201OA-icon.png] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model

GWAS snp
PMID [PMID 23118974OA-icon.png]
Trait Eye color
Title Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
Risk Allele C
P-val 2E-20
Odds Ratio .35 [0.28-0.42] unit increase


ClinVar
Risk rs1667394(A;A)
Alt rs1667394(A;A)
Reference rs1667394(G;G)
Significance Other
Disease Skin/hair/eye pigmentation
Variation info
Gene HERC2
CLNDBN Skin/hair/eye pigmentation, variation in, 1
Reversed 1
HGVS NC_000015.9:g.28530182C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005009.3,