Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1269252748
VLDLR-AS1 ; VLDLR
9 2641436 missense variant C/T snv 4
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del 4
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1057519279
KMT2B
1.000 19 35720980 stop gained C/T snv 3
rs1057519281
KMT2B
1.000 19 35721775 stop gained C/T snv 3
rs1554504684
RHOBTB2
1.000 8 23007711 missense variant G/A snv 3
rs1296383102
HIBCH
2 190208898 missense variant G/C snv 4.0E-06 2
rs142909469
TOR1A
9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 2
rs146087734
THAP1
8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 2
rs1476648522
TOR1A
9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 2
rs35153737
TOR1A
9 129813558 3 prime UTR variant C/- del 0.14 2
rs574658589
HPCA
1 32888928 synonymous variant C/T snv 1.2E-05 2
rs753374463
GNAL
18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 2
rs761104644
ZNF415
19 53109614 missense variant A/G snv 4.0E-06 2
rs113371321
NPC1
18 23534477 missense variant G/A;C snv 1.2E-04 1
rs1372180906
MIR4686 ; TH
11 2171856 5 prime UTR variant C/T snv 7.0E-06 1
rs1566687487
GCH1
14 54902537 frameshift variant -/G delins 1
rs146170087
C19orf12
0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 7
rs1801968
TOR1A
0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 7
rs515726205
C19orf12
0.882 0.040 19 29702966 missense variant C/T snv 2.4E-05 1.4E-05 7
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 5
rs760743322
APP
1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 4
rs104894442
GCH1
1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 3
rs121434410
PRKRA ; CHROMR
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 3
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 3