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: rs201422368
rs201422368
2 1.000 0.040 1 111120539 stop gained C/T snv 3.6E-05 3.5E-05 0.700 0
dbSNP: rs746559651
rs746559651
2 1.000 0.040 1 111126286 frameshift variant C/- delins 1.2E-05 7.1E-06 0.700 0
dbSNP: rs786205661
rs786205661
2 1.000 0.040 1 111131489 inframe deletion CAG/- delins 0.700 0
dbSNP: rs786205662
rs786205662
2 1.000 0.040 1 111131476 missense variant A/G snv 0.700 0
dbSNP: rs786205663
rs786205663
1 1 111124856 inframe deletion CGAACATAA/- delins 0.700 0
dbSNP: rs786205664
rs786205664
2 1.000 0.040 1 111120671 missense variant T/A snv 0.700 0
dbSNP: rs786205665
rs786205665
2 1.000 0.040 1 111131424 missense variant C/T snv 7.0E-06 0.700 0