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: rs1209759817
rs1209759817
VPS13B
1 1.000 0.160 8 99121366 missense variant A/G snv 1.4E-05 0.010 1.000 1 2015 2015