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: rs122453121
rs122453121
2 0.925 0.440 X 133699902 stop gained G/A snv 0.700 1.000 3 2007 2014
dbSNP: rs104894855
rs104894855
2 0.925 0.440 X 133753919 stop gained G/A snv 0.700 0
dbSNP: rs122453119
rs122453119
1 1.000 0.160 X 133754153 missense variant G/A snv 0.700 0
dbSNP: rs122453120
rs122453120
1 1.000 0.160 X 133536162 missense variant C/T snv 0.700 0
dbSNP: rs1556297749
rs1556297749
1 1.000 0.160 X 133753860 frameshift variant CTGGGTCATAATAAGCTTGGGGAAAT/TGCAAG delins 0.700 0
dbSNP: rs1569392947
rs1569392947
1 1.000 0.160 X 133596542 stop gained C/A snv 0.700 0
dbSNP: rs1569408743
rs1569408743
1 1.000 0.160 X 133661836 frameshift variant G/- del 0.700 0