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: rs104894198
rs104894198
2 0.925 0.200 11 67365493 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs104894203
rs104894203
2 0.925 0.200 11 67365224 missense variant C/A;T snv 0.700 0
dbSNP: rs104894668
rs104894668
2 0.925 0.200 19 18594338 missense variant A/C snv 0.700 0
dbSNP: rs137853926
rs137853926
1 1.000 0.200 19 18598591 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs137853927
rs137853927
2 0.925 0.200 19 18596895 missense variant C/A snv 0.700 0
dbSNP: rs137853929
rs137853929
1 1.000 0.200 19 18606604 frameshift variant CCGCCGCGCGGATTGGGCGGCGG/- delins 2.2E-05 0.700 0
dbSNP: rs137853930
rs137853930
2 0.925 0.200 19 18598886 missense variant G/A snv 0.700 0
dbSNP: rs137853931
rs137853931
1 1.000 0.200 19 18599659 frameshift variant G/- delins 0.700 0
dbSNP: rs137853932
rs137853932
1 1.000 0.200 19 18599564 splice donor variant C/T snv 0.700 0
dbSNP: rs137853933
rs137853933
2 0.925 0.200 19 18596711 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs137853934
rs137853934
2 0.925 0.200 11 67367597 missense variant A/G snv 0.700 0
dbSNP: rs137853935
rs137853935
1 1.000 0.200 11 67365138 stop lost A/G snv 0.700 0
dbSNP: rs367543004
rs367543004
1 1.000 0.200 19 18596782 frameshift variant GTCCACCA/- del 0.700 0
dbSNP: rs137853145
rs137853145
2 0.925 0.200 19 18596918 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014