rs3829241

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs3829241(A;A)

Make rs3829241(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

69087895

Gene

TPCN2

is a	snp
is	mentioned by
dbSNP	rs3829241
dbSNP (classic)	rs3829241
ClinGen	rs3829241
ebi	rs3829241
HLI	rs3829241
Exac	rs3829241
Gnomad	rs3829241
Varsome	rs3829241
LitVar	rs3829241
Map	rs3829241
PheGenI	rs3829241
Biobank	rs3829241
1000 genomes	rs3829241
hgdp	rs3829241
ensembl	rs3829241
geneview	rs3829241
scholar	rs3829241
google	rs3829241
pharmgkb	rs3829241
gwascentral	rs3829241
openSNP	rs3829241
23andMe	rs3829241
SNPshot	rs3829241
SNPdbe	rs3829241
MSV3d	rs3829241
GWAS Ctlg	rs3829241

GMAF

0.2355

Max Magnitude

0

?

(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

OMIM	612267
Desc	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10
Variant
Related	also

OMIM	612163
Desc	TWO-PORE SEGMENT CHANNEL 2; TPCN2
Variant
Related	also

OMIM	612163
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000000764.2,

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