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: rs886041386
rs886041386
GDAP1
1 1.000 0.080 8 74361900 frameshift variant A/- del 4.0E-06 2.8E-05 0.700 1.000 1 2014 2014