ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199476133
rs199476133
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0