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: rs754921650
rs754921650
1 1.000 0.040 3 47120446 missense variant T/C snv 1.2E-05 2.1E-05 0.700 1.000 2 2005 2014
dbSNP: rs1169288572
rs1169288572
1 1.000 0.040 3 47122237 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0