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: rs148508754
rs148508754
4 0.882 0.120 11 36594065 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1555743321
rs1555743321
1 1.000 0.120 19 17831775 frameshift variant TGACCAGCCGCAGGCTCTGGCG/- del 0.700 0
dbSNP: rs1555908409
rs1555908409
7 0.851 0.160 22 37232842 missense variant C/T snv 0.700 0
dbSNP: rs1561424886
rs1561424886
1 1.000 0.120 5 35874447 splice acceptor variant A/G snv 0.700 0
dbSNP: rs193922348
rs193922348
2 1.000 0.120 X 71110295 missense variant A/C;G snv 0.700 0
dbSNP: rs193922361
rs193922361
2 0.925 0.120 19 17837171 missense variant G/A snv 0.700 0
dbSNP: rs193922362
rs193922362
1 1.000 0.120 19 17837148 synonymous variant G/A snv 5.8E-06 0.700 0
dbSNP: rs193922364
rs193922364
1 1.000 0.120 19 17842498 frameshift variant AG/- del 4.7E-06 0.700 0
dbSNP: rs193922462
rs193922462
1 1.000 0.120 11 36575907 missense variant C/T snv 2.8E-05 7.0E-05 0.700 0
dbSNP: rs193922464
rs193922464
3 0.882 0.160 11 36573626 stop gained C/G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs193922574
rs193922574
1 1.000 0.120 11 36593952 missense variant G/A snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs193922575
rs193922575
1 1.000 0.120 11 36593841 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs193922640
rs193922640
1 1.000 0.120 5 35867354 frameshift variant -/ATATATTTCA delins 0.700 0
dbSNP: rs193922641
rs193922641
3 0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05 0.700 0
dbSNP: rs193922642
rs193922642
1 1.000 0.120 5 35873481 missense variant A/C;G snv 4.8E-05 0.700 0
dbSNP: rs193922643
rs193922643
1 1.000 0.120 5 35873558 stop gained CG/TA mnv 0.700 0
dbSNP: rs193922645
rs193922645
1 1.000 0.120 5 35873586 missense variant G/T snv 0.700 0
dbSNP: rs193922647
rs193922647
1 1.000 0.120 5 35875988 stop lost A/C snv 0.700 0
dbSNP: rs3218716
rs3218716
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs672601318
rs672601318
1 1.000 0.120 1 167518464 start lost A/G snv 0.700 0
dbSNP: rs74315329
rs74315329
15 0.732 0.240 1 171636338 stop gained G/A snv 1.1E-03 8.7E-04 0.700 0
dbSNP: rs121908721
rs121908721
ADA ; PKIG
3 0.882 0.160 20 44621121 missense variant G/A;C snv 2.4E-05 0.710 1.000 1 2019 2019
dbSNP: rs1057520020
rs1057520020
1 1.000 0.120 19 17834908 missense variant C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1555844617
rs1555844617
ADA
2 0.925 0.120 20 44625650 frameshift variant -/T delins 0.700 1.000 1 2011 2011
dbSNP: rs751635016
rs751635016
ADA ; PKIG
1 1.000 0.120 20 44622588 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009