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: rs74315320
rs74315320
2 0.925 0.120 1 34785183 missense variant A/G snv 0.700 0
dbSNP: rs770247378
rs770247378
1 1.000 0.120 1 34785183 inframe deletion ATT/- del 0.700 0
dbSNP: rs772264564
rs772264564
1 1.000 0.120 13 20189117 stop gained A/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs879255246
rs879255246
2 0.925 0.120 2 26484568 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016