RS35264875 TPCN2

Health Risk Chr 11:69078930 snv missense variant

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What This Variant Does

"blonde hair color [OMIM:TWO-PORE SEGMENT CHANNEL 2

Associated Conditions

SKIN/HAIR/EYE PIGMENTATION

VARIATION IN

SKIN/HAIR/EYE PIGMENTATION

VARIATION IN

GWAS Studies (3)

Trait	Risk Allele	OR / Beta	P-value	Study
Blond vs. brown hair color	T	OR: 2.49	4E-30	PubMed
Type 2 diabetes	A	OR: 1.07	2E-6	PubMed
Type 2 diabetes (adjusted for BMI)	A	OR: 1.06	2E-6	PubMed

Population Frequencies

gnomAD ALL

83.6%

1kG AFR

2.1%

1kG ALL

10%

1kG AMR

91.5%

1kG EAS

98.9%

1kG EUR

19.9%

1kG SAS

79.4%

Other Variants in TPCN2