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: rs398122372
rs398122372
1 1.000 0.080 17 47307581 missense variant G/A;C snv 4.0E-06 0.800 1.000 2 2008 2018
dbSNP: rs766503255
rs766503255
4 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.800 0
dbSNP: rs879255514
rs879255514
2 0.925 0.080 17 44372407 missense variant C/T snv 4.0E-06 0.700 1.000 2 1998 2011
dbSNP: rs398122373
rs398122373
1 1.000 0.080 17 47302841 splice donor variant G/C snv 0.700 0
dbSNP: rs398122374
rs398122374
3 0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0