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: rs121434264
rs121434264
6 0.851 0.080 1 193125171 missense variant T/C snv 0.800 1.000 5 2002 2008
dbSNP: rs1060500015
rs1060500015
1 1.000 0.040 1 193125168 missense variant T/C snv 0.700 1.000 5 2002 2008
dbSNP: rs1057519419
rs1057519419
1 1.000 0.040 1 193125110 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs587776558
rs587776558
2 0.925 0.040 1 193122332 splice donor variant G/A snv 0.700 0
dbSNP: rs80356649
rs80356649
3 0.882 0.160 1 193142016 frameshift variant -/AG ins 4.0E-06 0.700 0
dbSNP: rs863223311
rs863223311
1 1.000 0.040 11 64805033 splice donor variant C/T snv 0.700 0