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: rs104894024
rs104894024
2 0.925 0.120 7 2525301 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs1211456697
rs1211456697
1 1.000 0.040 7 2525433 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1562551396
rs1562551396
1 1.000 0.040 7 2520233 frameshift variant G/- del 0.700 0