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: rs1466727439
rs1466727439
1 1.000 0.120 8 38414814 missense variant T/C snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs757254917
rs757254917
1 1.000 0.120 8 38415967 missense variant T/A;G snv 4.0E-06; 1.2E-04 0.010 1.000 1 2000 2000
dbSNP: rs869025672
rs869025672
2 0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 2000 2000