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: rs104894434
rs104894434
GCH1
2 0.925 0.120 14 54844108 missense variant A/G snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs104894435
rs104894435
GCH1
3 0.882 0.120 14 54902341 missense variant C/T snv 0.700 0
dbSNP: rs1057516491
rs1057516491
TH
1 1.000 0.040 11 2166689 frameshift variant C/- del 0.700 0
dbSNP: rs1057516712
rs1057516712
TH
1 1.000 0.040 11 2167011 frameshift variant C/- del 0.700 0
dbSNP: rs1057516716
rs1057516716
TH ; MIR4686
1 1.000 0.040 11 2171774 frameshift variant -/G delins 0.700 0
dbSNP: rs1057516736
rs1057516736
TH
1 1.000 0.040 11 2166632 splice donor variant C/T snv 0.700 0
dbSNP: rs1057516819
rs1057516819
TH
1 1.000 0.040 11 2166001 splice donor variant C/T snv 0.700 0
dbSNP: rs1057516874
rs1057516874
TH
1 1.000 0.040 11 2169855 splice acceptor variant CAATGAACCGCGGGGACTGTGGGGAC/- delins 0.700 0
dbSNP: rs1057517003
rs1057517003
TH
1 1.000 0.040 11 2168489 splice donor variant A/G snv 0.700 0
dbSNP: rs1057517162
rs1057517162
TH
1 1.000 0.040 11 2166530 frameshift variant G/- del 0.700 0
dbSNP: rs1057517423
rs1057517423
TH
1 1.000 0.040 11 2167909 stop gained G/A snv 4.1E-06 0.700 1.000 2 2011 2012
dbSNP: rs1057519220
rs1057519220
TH
1 1.000 0.040 11 2169670 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057520384
rs1057520384
TH
1 1.000 0.040 11 2166003 missense variant G/A;T snv 5.9E-06; 5.9E-06 0.700 1.000 20 1995 2014
dbSNP: rs121917762
rs121917762
TH
3 0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 20 1995 2014
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 22 1995 2014
dbSNP: rs121917764
rs121917764
TH
1 1.000 0.040 11 2166762 missense variant G/A;C snv 7.0E-06 0.700 1.000 20 1995 2014
dbSNP: rs121917765
rs121917765
TH
1 1.000 0.040 11 2166544 missense variant C/A snv 0.800 1.000 20 1995 2014
dbSNP: rs1264884607
rs1264884607
TH
1 1.000 0.040 11 2165679 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs1266265578
rs1266265578
TH
1 1.000 0.040 11 2167865 splice donor variant C/T snv 2.1E-05 0.700 0
dbSNP: rs1273610334
rs1273610334
TH
1 1.000 0.040 11 2166985 missense variant C/A snv 4.8E-06 0.700 0
dbSNP: rs1288483479
rs1288483479
TH
1 1.000 0.040 11 2166760 missense variant C/T snv 7.0E-06 0.800 1.000 22 1995 2017
dbSNP: rs137852633
rs137852633
GCH1
1 1.000 0.040 14 54845799 missense variant G/C snv 0.700 0
dbSNP: rs1428589694
rs1428589694
TH
1 1.000 0.040 11 2166721 missense variant G/A snv 0.700 1.000 20 1995 2014
dbSNP: rs1554922434
rs1554922434
TH
1 1.000 0.040 11 2165284 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1554922441
rs1554922441
TH
1 1.000 0.040 11 2165300 stop gained G/T snv 0.700 0