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: rs386833840
rs386833840
1 1.000 0.240 19 35907534 frameshift variant C/- del 0.700 1.000 2 2000 2002
dbSNP: rs104894732
rs104894732
2 0.925 0.240 19 35908227 start lost A/G snv 0.700 1.000 1 2002 2002
dbSNP: rs386833839
rs386833839
1 1.000 0.240 19 35907559 missense variant C/T snv 0.700 0
dbSNP: rs386833841
rs386833841
1 1.000 0.240 19 35907530 missense variant C/G snv 4.0E-06 0.700 0
dbSNP: rs386833842
rs386833842
1 1.000 0.240 19 35907232 stop gained C/A;T snv 8.5E-06 0.700 0