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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
ebirs35264875
HLIrs35264875
Exacrs35264875
Varsomers35264875
Maprs35264875
PheGenIrs35264875
hapmaprs35264875
1000 genomesrs35264875
hgdprs35264875
ensemblrs35264875
gopubmedrs35264875
geneviewrs35264875
scholarrs35264875
googlers35264875
pharmgkbrs35264875
gwascentralrs35264875
openSNPrs35264875
23andMers35264875
23andMe allrs35264875
SNP Nexus

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


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,T;C,T)
Alt rs35264875(C,T;C,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
CLNACC RCV000000763.2,



GET Evidence
TPCN2-M484L
aa_change Met484Leu
aa_change_short M484L
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.128555
summary



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