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: rs121912860
rs121912860
2 0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06 0.800 1.000 3 1996 2003
dbSNP: rs769783985
rs769783985
3 0.925 0.120 2 227052395 missense variant C/G;T snv 1.2E-05 2.1E-05 0.800 1.000 3 1996 2003
dbSNP: rs121912826
rs121912826
1 1.000 0.120 2 227290062 missense variant G/A snv 0.800 1.000 1 2002 2002
dbSNP: rs121912827
rs121912827
2 0.925 0.120 2 227289222 missense variant G/A;T snv 2.0E-05 0.800 1.000 1 2002 2002
dbSNP: rs13027659
rs13027659
1 1.000 0.120 2 227051131 missense variant C/T snv 1.2E-02 1.3E-02 0.700 1.000 3 1996 2003
dbSNP: rs1553696235
rs1553696235
1 1.000 0.120 2 227119920 missense variant C/T snv 0.700 1.000 3 1996 2003
dbSNP: rs1363680371
rs1363680371
3 0.882 0.120 2 227254659 frameshift variant -/T delins 0.700 1.000 1 1997 1997
dbSNP: rs1060499654
rs1060499654
3 0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs121912824
rs121912824
3 0.882 0.120 2 227307898 stop gained C/T snv 4.0E-06 2.8E-05 0.700 0
dbSNP: rs1346138010
rs1346138010
3 0.882 0.120 2 227246688 stop gained G/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1559493506
rs1559493506
1 1.000 0.120 2 227047541 frameshift variant -/T delins 0.700 0
dbSNP: rs1559643753
rs1559643753
2 1.000 0.120 2 227108597 missense variant C/T snv 0.700 0
dbSNP: rs1559742015
rs1559742015
1 1.000 0.120 2 227147412 splice donor variant C/T snv 0.700 0
dbSNP: rs370474706
rs370474706
1 1.000 0.120 2 227051141 missense variant C/A;T snv 8.0E-06; 2.8E-05 0.700 0
dbSNP: rs757341933
rs757341933
3 0.882 0.120 2 227266473 missense variant G/A;C snv 2.4E-05 0.700 0
dbSNP: rs869025326
rs869025326
1 1.000 0.120 2 227253640 splice donor variant T/C snv 0.700 0
dbSNP: rs869025327
rs869025327
1 1.000 0.120 2 227294562 missense variant G/A snv 0.700 0
dbSNP: rs869025328
rs869025328
1 1.000 0.120 2 227253638 splice region variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs869025329
rs869025329
1 1.000 0.120 2 227098800 splice acceptor variant T/G snv 0.700 0
dbSNP: rs104886142
rs104886142
10 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2007 2007
dbSNP: rs769744951
rs769744951
1 1.000 0.120 2 227267055 synonymous variant T/C snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs777805216
rs777805216
1 1.000 0.120 2 227088805 missense variant G/A snv 3.2E-05 0.010 1.000 1 2018 2018