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: rs28934581
rs28934581
TH
1 1.000 0.040 11 2166995 missense variant T/G snv 1.5E-05 0.800 1.000 20 1995 2014
dbSNP: rs41298442
rs41298442
GCH1
3 0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 0.700 0
dbSNP: rs1554923121
rs1554923121
TH
1 1.000 0.040 11 2167034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554922441
rs1554922441
TH
1 1.000 0.040 11 2165300 stop gained G/T snv 0.700 0
dbSNP: rs137852633
rs137852633
GCH1
1 1.000 0.040 14 54845799 missense variant G/C snv 0.700 0
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: 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: rs763198914
rs763198914
TH
1 1.000 0.040 11 2166495 missense variant G/A;C snv 4.7E-06; 4.7E-06 0.700 1.000 20 1995 2014
dbSNP: rs1428589694
rs1428589694
TH
1 1.000 0.040 11 2166721 missense variant G/A snv 0.700 1.000 20 1995 2014
dbSNP: rs763039181
rs763039181
TH
1 1.000 0.040 11 2166045 missense variant G/A snv 1.8E-05 0.700 1.000 20 1995 2014
dbSNP: rs549435434
rs549435434
TH ; MIR4686
1 1.000 0.040 11 2171857 5 prime UTR variant G/A snv 2.1E-05 0.700 1.000 5 1997 2015
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: 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 2 2010 2012
dbSNP: rs786204540
rs786204540
TH
1 1.000 0.040 11 2165284 stop gained G/A snv 0.700 1.000 2 2010 2014
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: rs45471299
rs45471299
TH
2 1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 0.800 0
dbSNP: rs1554922434
rs1554922434
TH
1 1.000 0.040 11 2165284 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057517162
rs1057517162
TH
1 1.000 0.040 11 2166530 frameshift variant G/- del 0.700 0
dbSNP: rs1564918287
rs1564918287
TH
1 1.000 0.040 11 2167013 frameshift variant CG/- delins 0.700 0
dbSNP: rs1554922593
rs1554922593
TH
1 1.000 0.040 11 2165688 frameshift variant CAGCA/- delins 0.700 0
dbSNP: rs1057516874
rs1057516874
TH
1 1.000 0.040 11 2169855 splice acceptor variant CAATGAACCGCGGGGACTGTGGGGAC/- delins 0.700 0
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.800 1.000 23 1995 2014
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: rs28934580
rs28934580
TH
1 1.000 0.040 11 2166693 missense variant C/T snv 0.700 1.000 20 1995 2014