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rs35264875

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 3 blonde hair color
Make rs35264875(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position69078931
GeneTPCN2
is asnp
is mentioned by
dbSNPrs35264875
dbSNP (classic)rs35264875
ClinGenrs35264875
ebirs35264875
HLIrs35264875
Exacrs35264875
Gnomadrs35264875
Varsomers35264875
LitVarrs35264875
Maprs35264875
PheGenIrs35264875
Biobankrs35264875
1000 genomesrs35264875
hgdprs35264875
ensemblrs35264875
geneviewrs35264875
scholarrs35264875
googlers35264875
pharmgkbrs35264875
gwascentralrs35264875
openSNPrs35264875
23andMers35264875
SNPshotrs35264875
SNPdbers35264875
MSV3drs35264875
GWAS Ctlgrs35264875
GMAF0.1015
Max Magnitude3
GWAS
SNP rs35264875
PubMedID [PMID 18488028]
Condition Blond vs. brown hair
Gene TPCN2
Risk Allele T
pValue 4.00E-030
OR 2.49
95% CI 1.96-3.15


blonde hair color

OMIM612267
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10
Variant
Relatedalso
OMIM612163
DescTWO-PORE SEGMENT CHANNEL 2; TPCN2
Variant
Relatedalso


? (A;A) (A;T) (T;T)


OMIM612163
Desc
Variant0001
Relatedalso


ClinVar
Risk rs35264875(C;C) Rs35264875(T;T)
Alt rs35264875(C;C) Rs35264875(T;T)
Reference Rs35264875(A;A)
Significance Other
Disease Skin/hair/eye pigmentation
Variation info
Gene TPCN2
CLNDBN Skin/hair/eye pigmentation, variation in, 10
Reversed 0
HGVS NC_000011.9:g.68846399A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000763.2,




[PMID 26918892OA-icon.png] Genetic Variants of TPCN2 Associated with Type 2 Diabetes Risk in the Chinese Population.