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: rs1554923004
rs1554923004
TH
1 1.000 0.040 11 2166764 frameshift variant -/C delins 0.700 0
dbSNP: rs1554923810
rs1554923810
TH
1 1.000 0.040 11 2169665 frameshift variant -/CGGGACAGCGCCGAGGGCT delins 0.700 0
dbSNP: rs1057516716
rs1057516716
TH ; MIR4686
1 1.000 0.040 11 2171774 frameshift variant -/G delins 0.700 0
dbSNP: rs1554923852
rs1554923852
TH
1 1.000 0.040 11 2169759 frameshift variant A/- del 0.700 1.000 1 2001 2001
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: rs1554922725
rs1554922725
TH
1 1.000 0.040 11 2166054 missense variant A/G snv 0.700 1.000 20 1995 2014
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: rs1057517003
rs1057517003
TH
1 1.000 0.040 11 2168489 splice donor variant A/G snv 0.700 0
dbSNP: rs201932766
rs201932766
TH ; MIR4686
1 1.000 0.040 11 2171785 start lost A/G snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1554923317
rs1554923317
TH
1 1.000 0.040 11 2167864 splice donor variant A/T snv 0.700 0
dbSNP: rs587776767
rs587776767
TH
1 1.000 0.040 11 2165787 intron variant A/T snv 0.700 0
dbSNP: rs1554924357
rs1554924357
TH ; MIR4686
1 1.000 0.040 11 2171744 frameshift variant AAGCCCTTGGCCTGTGGCGTGGTGGCGTCGGG/- delins 0.700 0
dbSNP: rs1554923305
rs1554923305
TH
1 1.000 0.040 11 2167851 splice donor variant AGGGGCCCCTCACTGC/- delins 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: rs797045111
rs797045111
TH
1 1.000 0.040 11 2169679 frameshift variant C/- delins 0.700 0
dbSNP: rs121917765
rs121917765
TH
1 1.000 0.040 11 2166544 missense variant C/A snv 0.800 1.000 20 1995 2014
dbSNP: rs1273610334
rs1273610334
TH
1 1.000 0.040 11 2166985 missense variant C/A snv 4.8E-06 0.700 0
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: 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: 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: 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: 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: rs1554923513
rs1554923513
TH
1 1.000 0.040 11 2168490 splice donor variant C/G;T snv 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