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rs3829241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3829241(A;A)
Make rs3829241(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position69087895
GeneTPCN2
is asnp
is mentioned by
dbSNPrs3829241
ebirs3829241
HLIrs3829241
Exacrs3829241
Varsomers3829241
Maprs3829241
PheGenIrs3829241
hapmaprs3829241
1000 genomesrs3829241
hgdprs3829241
ensemblrs3829241
gopubmedrs3829241
geneviewrs3829241
scholarrs3829241
googlers3829241
pharmgkbrs3829241
gwascentralrs3829241
openSNPrs3829241
23andMers3829241
23andMe allrs3829241
SNP Nexus

SNPshotrs3829241
SNPdbers3829241
MSV3drs3829241
GWAS Ctlgrs3829241
GMAF0.2355
Max Magnitude0
? (A;A) (A;G) (G;G) 28

This SNP influences appearance and is located in the TPCN2 gene. A study [PMID 18488028] of 5130 Icelanders (with further followup in another 2116 Icelanders and 1214 Dutch individuals) found significant association between a group of SNPs within the TPCN2 gene.All of the discovered difference between blonde and brown hair could be explained by genotypes with rs3829241 and Rs35264875. The A allele was significantly associated with blonde versus brown hair with a P-value 6.2e-16

Summaried in gnxp

OMIM612267
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10
Variant
Relatedalso
OMIM612163
DescTWO-PORE SEGMENT CHANNEL 2; TPCN2
Variant
Relatedalso
OMIM612163
Desc
Variant0002
Relatedalso
ClinVar
Risk rs3829241(A;A)
Alt rs3829241(A;A)
Reference rs3829241(G;G)
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.68855363G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000764.2,



GET Evidence
TPCN2-G734E
aa_change Gly734Glu
aa_change_short G734E
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.286166
summary Pigmentation allele.



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