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: rs137853272
rs137853272
1 1.000 0.120 X 80677232 missense variant T/C;G snv 0.800 1.000 1 2007 2007
dbSNP: rs1057518650
rs1057518650
1 1.000 0.120 X 80745592 stop gained G/A snv 0.700 0
dbSNP: rs1569290395
rs1569290395
1 1.000 0.120 X 80793697 missense variant C/T snv 0.700 0
dbSNP: rs730882185
rs730882185
1 1.000 0.120 X 80692088 splice donor variant C/A snv 0.700 0
dbSNP: rs730882186
rs730882186
1 1.000 0.120 X 80735165 frameshift variant -/T delins 0.700 0
dbSNP: rs863224851
rs863224851
1 1.000 0.120 X 80682607 missense variant A/C snv 5.5E-06 0.700 0