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: rs749435317
rs749435317
3 0.882 0.280 8 93786287 frameshift variant A/- del 0.700 1.000 1 2006 2006
dbSNP: rs386834180
rs386834180
8 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 0