Source: ALL
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: rs1372180906
rs1372180906
TH ; MIR4686
1 11 2171856 5 prime UTR variant C/T snv 7.0E-06 0.700 1.000 2 2007 2011
dbSNP: rs1057519279
rs1057519279
KMT2B
3 1.000 19 35720980 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519281
rs1057519281
KMT2B
3 1.000 19 35721775 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1296383102
rs1296383102
HIBCH
2 2 190208898 missense variant G/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs142909469
rs142909469
TOR1A
2 9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs146087734
rs146087734
THAP1
2 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs1476648522
rs1476648522
TOR1A
2 9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs35153737
rs35153737
TOR1A
2 9 129813558 3 prime UTR variant C/- del 0.14 0.010 1.000 1 2017 2017
dbSNP: rs574658589
rs574658589
HPCA
2 1 32888928 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs753374463
rs753374463
GNAL
2 18 11689847 missense variant T/C snv 2.2E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs761104644
rs761104644
ZNF415
2 19 53109614 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs113371321
rs113371321
NPC1
1 18 23534477 missense variant G/A;C snv 1.2E-04 0.700 0
dbSNP: rs1554504684
rs1554504684
RHOBTB2
3 1.000 8 23007711 missense variant G/A snv 0.700 0
dbSNP: rs1566687487
rs1566687487
GCH1
1 14 54902537 frameshift variant -/G delins 0.700 0
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.710 1.000 8 1991 2014
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.700 1.000 7 1998 2015
dbSNP: rs771610752
rs771610752
TH
3 0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 0.700 1.000 3 2010 2017
dbSNP: rs1801968
rs1801968
TOR1A
7 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2013 2017
dbSNP: rs104894442
rs104894442
GCH1
3 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
3 1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs146170087
rs146170087
C19orf12
7 0.925 0.040 19 29702747 missense variant T/C snv 2.3E-03 1.1E-03 0.710 1.000 1 2018 2018
dbSNP: rs760743322
rs760743322
APP
4 1.000 0.040 21 25975997 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014