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: rs1553316926
rs1553316926
1 1.000 0.120 2 19935529 missense variant T/A snv 0.700 0
dbSNP: rs199952377
rs199952377
4 0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04 0.700 0
dbSNP: rs200649783
rs200649783
5 0.827 0.120 2 19969556 missense variant C/A snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs776631281
rs776631281
1 1.000 0.120 2 19953831 splice region variant T/C snv 8.0E-06 7.0E-06 0.700 0