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: rs1566687321
rs1566687321
GCH1
2 0.925 0.120 14 54902441 frameshift variant AGGC/- del 0.700 0
dbSNP: rs104894445
rs104894445
GCH1
2 0.925 0.120 14 54845843 missense variant C/T snv 0.020 1.000 2 2004 2019
dbSNP: rs1422203629
rs1422203629
TH
1 1.000 0.040 11 2167444 missense variant A/G snv 5.8E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs367874223
rs367874223
TH
2 0.925 0.040 11 2165337 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs760082371
rs760082371
NIF3L1
1 1.000 0.040 2 200893297 missense variant C/T snv 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs765035547
rs765035547
GCH1
1 1.000 0.040 14 54845775 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs771351747
rs771351747
TH
1 1.000 0.040 11 2164327 missense variant T/C snv 5.5E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs771610752
rs771610752
TH
3 0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 0.010 1.000 1 2017 2017