RS374698153 PNPT1

Health Risk Chr 2:55647357
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What This Variant Does
"CLNSIG=4
Associated Conditions
Combined oxidative phosphorylation defect type 13
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 70
PNPT1-related disorder
Combined oxidative phosphorylation defect type 13
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 70
PNPT1-related disorder
Other Variants in PNPT1
rs397514598 rs397514599 rs146571352 rs748445058 rs863224169 rs143712760 rs767310806 rs34928857 rs772153760 rs151166046
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