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: rs764552042
rs764552042
HEXB ; GFM2
1 1.000 0.120 5 74720731 missense variant C/T snv 3.2E-05 0.700 1.000 6 2011 2016