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: 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: 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: rs121917765
rs121917765
TH
1 1.000 0.040 11 2166544 missense variant C/A snv 0.800 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: rs1554922725
rs1554922725
TH
1 1.000 0.040 11 2166054 missense variant A/G snv 0.700 1.000 20 1995 2014
dbSNP: rs28934580
rs28934580
TH
1 1.000 0.040 11 2166693 missense variant C/T snv 0.700 1.000 20 1995 2014
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: rs367874223
rs367874223
TH
2 0.925 0.040 11 2165337 missense variant C/G;T snv 2.4E-05 0.700 1.000 20 1995 2014
dbSNP: rs370962049
rs370962049
TH
1 1.000 0.040 11 2165721 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.700 1.000 20 1995 2014
dbSNP: rs745551241
rs745551241
TH
1 1.000 0.040 11 2165739 missense variant C/G;T snv 4.0E-06 0.700 1.000 20 1995 2014
dbSNP: rs755536257
rs755536257
TH
1 1.000 0.040 11 2166941 missense variant C/A;G;T snv 1.8E-05 0.700 1.000 20 1995 2014
dbSNP: rs762304556
rs762304556
TH
1 1.000 0.040 11 2167484 missense variant C/G;T snv 6.6E-05 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: 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: 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: rs786204540
rs786204540
TH
1 1.000 0.040 11 2165284 stop gained G/A snv 0.700 1.000 2 2010 2014
dbSNP: rs1554922434
rs1554922434
TH
1 1.000 0.040 11 2165284 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1554923852
rs1554923852
TH
1 1.000 0.040 11 2169759 frameshift variant A/- del 0.700 1.000 1 2001 2001
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