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: rs387907308
rs387907308
NIN
1 1.000 14 50744304 missense variant T/C;G snv 3.0E-04 0.700 0
dbSNP: rs747680111
rs747680111
NIN
1 1.000 14 50758548 frameshift variant T/- del 7.0E-06 0.700 0