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: rs1558937172
rs1558937172
2 0.925 0.160 2 120984744 splice donor variant G/A snv 0.700 1.000 2 2003 2010
dbSNP: rs114814747
rs114814747
1 1.000 2 120990472 missense variant G/A;C snv 9.4E-03; 4.0E-06 0.700 0
dbSNP: rs1388607733
rs1388607733
2 0.925 0.160 2 120927402 frameshift variant -/T delins 0.700 0
dbSNP: rs149140724
rs149140724
1 1.000 2 120989968 missense variant A/G snv 8.6E-03 9.6E-03 0.700 0
dbSNP: rs149800897
rs149800897
1 1.000 2 120984610 missense variant C/A;T snv 8.0E-06; 2.0E-05 0.700 0
dbSNP: rs1553471273
rs1553471273
3 0.925 0.160 2 120951309 frameshift variant G/- delins 0.700 0
dbSNP: rs1553478423
rs1553478423
1 1.000 2 120988228 frameshift variant A/- del 0.700 0
dbSNP: rs374155310
rs374155310
1 1.000 2 120972019 stop gained G/A;C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs587777455
rs587777455
1 1.000 2 120988273 frameshift variant CTGTCGG/- delins 0.700 0
dbSNP: rs587777456
rs587777456
1 1.000 2 120986401 frameshift variant TGAC/- delins 0.700 0
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.010 1.000 1 2017 2017