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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2006 2019
dbSNP: rs1180868926
rs1180868926
2 0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs761032372
rs761032372
2 0.925 0.200 3 9759215 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2006 2006