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: rs541717028
rs541717028
2 0.925 0.080 2 112019497 stop gained C/T snv 8.0E-06 4.2E-05 0.700 1.000 1 2004 2004
dbSNP: rs878853354
rs878853354
1 1.000 0.080 2 112019513 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs527236083
rs527236083
1 1.000 0.080 2 111929283 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs746238212
rs746238212
1 1.000 0.080 2 112019512 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1297079705
rs1297079705
1 1.000 0.080 2 111898746 missense variant C/G snv 0.010 1.000 1 2016 2016