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: rs72653173
rs72653173
2 0.923 0.107 17 50188765 stop gained G/A,C snp 4.0E-06 0.700 3 2001 2004
dbSNP: rs67815019
rs67815019
2 0.923 0.107 17 50187041 missense variant C/A,T snp 0.700 2 2007 2016
dbSNP: rs72645323
rs72645323
1 1.000 0.107 17 50197027 missense variant C/T snp 0.700 2 1975 1986
dbSNP: rs72645357
rs72645357
3 0.878 0.107 17 50196163 missense variant C/T snp 0.700 2 1991 1996
dbSNP: rs72656387
rs72656387
3 0.878 0.179 7 94409367 missense variant G/A snp 8.0E-06 0.700 2 2007 2008
dbSNP: rs72667023
rs72667023
2 0.923 0.107 17 50198170 frameshift variant CA/C in-del 0.700 2 2006 2009
dbSNP: rs72645328
rs72645328
2 0.923 0.107 17 50196670 missense variant C/T snp 0.700 1 2007 2007
dbSNP: rs72648320
rs72648320
1 1.000 0.107 17 50195433 splice donor variant C/T snp 0.700 1 1994 1994
dbSNP: rs72658154
rs72658154
1 1.000 0.107 7 94418518 missense variant G/A snp 0.700 1 2001 2001
dbSNP: rs144751329
rs144751329
1 1.000 0.107 17 50194380 missense variant C/A,T snp 4.0E-06; 2.0E-04 0.700 0
dbSNP: rs193922137
rs193922137
1 1.000 0.107 17 50195958 missense variant C/A snp 0.700 0
dbSNP: rs193922138
rs193922138
1 1.000 0.107 17 50195296 stop gained G/C snp 0.700 0
dbSNP: rs193922140
rs193922140
1 1.000 0.107 17 50194419 missense variant C/G snp 0.700 0
dbSNP: rs193922141
rs193922141
1 1.000 0.107 17 50194141 frameshift variant GT/G in-del 0.700 0
dbSNP: rs193922143
rs193922143
1 1.000 0.107 17 50193003 frameshift variant CA/C in-del 0.700 0
dbSNP: rs193922144
rs193922144
1 1.000 0.107 17 50191853 stop gained G/A snp 0.700 0
dbSNP: rs193922145
rs193922145
2 0.923 0.107 17 50191457 stop gained G/A snp 0.700 0
dbSNP: rs193922147
rs193922147
1 1.000 0.107 17 50190381 splice acceptor variant C/A,G snp 0.700 0
dbSNP: rs193922148
rs193922148
1 1.000 0.107 17 50190360 frameshift variant GA/G in-del 0.700 0
dbSNP: rs193922149
rs193922149
1 1.000 0.107 17 50190328 frameshift variant AG/A in-del 0.700 0
dbSNP: rs193922150
rs193922150
1 1.000 0.107 17 50189878 missense variant C/T snp 2.5E-05 0.700 0
dbSNP: rs193922151
rs193922151
1 1.000 0.107 17 50189521 frameshift variant CA/C in-del 0.700 0
dbSNP: rs193922152
rs193922152
1 1.000 0.107 17 50189208 missense variant T/C snp 0.700 0
dbSNP: rs193922154
rs193922154
1 1.000 0.107 17 50199589 frameshift variant ACT/A in-del 0.700 0
dbSNP: rs193922155
rs193922155
1 1.000 0.107 17 50199329 splice acceptor variant T/C snp 0.700 0