Gene: OFD1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs312262830
rs312262830
OFD1
4 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 2 2008 2014