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: rs71799110
rs71799110
2 0.925 0.080 22 32493269 missense variant C/G;T snv 4.8E-05 0.800 1.000 3 2008 2013
dbSNP: rs121918304
rs121918304
4 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121918305
rs121918305
2 0.925 0.080 22 32475067 missense variant C/T snv 0.700 0
dbSNP: rs1228608709
rs1228608709
1 1.000 0.080 22 32479009 frameshift variant A/- delins 4.0E-06 0.700 0
dbSNP: rs730880272
rs730880272
1 1.000 0.080 22 32493282 splice donor variant G/T snv 0.700 0
dbSNP: rs431905511
rs431905511
9 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2013 2013