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: rs372949028
rs372949028
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs752298579
rs752298579
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs122445108
rs122445108
7 0.807 0.320 X 77717155 stop gained G/A snv 0.700 0
dbSNP: rs122455132
rs122455132
2 0.925 0.200 X 74529232 missense variant T/C snv 0.700 0
dbSNP: rs1555050158
rs1555050158
2 0.925 0.200 11 105926808 missense variant A/T snv 0.700 0
dbSNP: rs1555050165
rs1555050165
3 0.925 0.200 11 105926814 missense variant A/G snv 0.700 0
dbSNP: rs1555050171
rs1555050171
2 0.925 0.200 11 105926821 missense variant C/G snv 0.700 0
dbSNP: rs1555050174
rs1555050174
2 0.925 0.200 11 105926824 missense variant C/T snv 0.700 0
dbSNP: rs1555455456
rs1555455456
1 1.000 0.200 15 43753826 missense variant G/A snv 0.700 0
dbSNP: rs1555661648
rs1555661648
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1555910048
rs1555910048
1 1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 0.700 0
dbSNP: rs1562928193
rs1562928193
1 1.000 0.200 7 105102045 frameshift variant -/TA delins 0.700 0
dbSNP: rs1569146649
rs1569146649
2 1.000 0.200 22 42211545 frameshift variant -/T delins 0.700 0
dbSNP: rs1569161831
rs1569161831
1 1.000 0.200 X 21426661 splice donor variant G/A snv 0.700 0
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs397515486
rs397515486
2 0.925 0.200 X 153964702 missense variant G/A snv 0.700 0
dbSNP: rs398123561
rs398123561
2 0.925 0.240 18 55350391 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs61748421
rs61748421
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
dbSNP: rs724159949
rs724159949
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs724159950
rs724159950
6 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
dbSNP: rs765556214
rs765556214
1 1.000 0.200 11 105933765 missense variant G/A;C snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs794729221
rs794729221
2 0.925 0.240 1 42929736 stop gained G/A snv 0.700 0
dbSNP: rs796053290
rs796053290
2 0.925 0.280 X 135998095 splice region variant TTTTA/- delins 0.700 0
dbSNP: rs869025287
rs869025287
2 0.925 0.200 12 115969040 frameshift variant GCCAATAT/- delins 0.700 0
dbSNP: rs869312674
rs869312674
2 0.925 0.200 6 33446569 splice region variant G/A;C snv 4.0E-06 0.700 0