RS199712282 PNPT1

Health Risk Chr 2:55693784
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Associated Conditions
Inborn genetic diseases
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Spinocerebellar ataxia type 25
Inborn genetic diseases
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Spinocerebellar ataxia type 25
Other Variants in PNPT1
rs397514598 rs397514599 rs374698153 rs146571352 rs748445058 rs863224169 rs143712760 rs767310806 rs34928857 rs772153760
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