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: rs1057518742
rs1057518742
1 1.000 0.080 16 28845030 missense variant A/T snv 0.700 0
dbSNP: rs1057518743
rs1057518743
1 1.000 0.080 16 28845997 frameshift variant G/- del 0.700 0
dbSNP: rs121434452
rs121434452
1 1.000 0.080 16 28844008 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs924099073
rs924099073
1 1.000 0.080 16 28844035 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 0