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: rs104894436
rs104894436
GCH1
1 1.000 0.040 14 54845808 missense variant C/A snv 4.0E-05 3.5E-05 0.700 0
dbSNP: rs104894439
rs104894439
GCH1
1 1.000 0.040 14 54902661 start lost C/G snv 0.700 0
dbSNP: rs104894444
rs104894444
GCH1
1 1.000 0.040 14 54902522 stop gained G/A;T snv 0.700 0
dbSNP: rs1375209791
rs1375209791
GCH1
1 1.000 0.040 14 54844049 missense variant G/A snv 0.700 0
dbSNP: rs1555358599
rs1555358599
GCH1
1 1.000 0.040 14 54847098 splice donor variant C/A;G snv 0.700 0
dbSNP: rs1555362835
rs1555362835
GCH1
1 1.000 0.040 14 54902385 frameshift variant -/T delins 0.700 0
dbSNP: rs1555362845
rs1555362845
GCH1
2 0.925 0.120 14 54902467 frameshift variant AGCTCGTTATCC/T delins 0.700 0
dbSNP: rs1555362907
rs1555362907
GCH1
1 1.000 0.040 14 54902663 start lost T/A snv 0.700 0
dbSNP: rs1566687321
rs1566687321
GCH1
2 0.925 0.120 14 54902441 frameshift variant AGGC/- del 0.700 0
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
dbSNP: rs1555360050
rs1555360050
GCH1
2 0.925 0.120 14 54865437 splice acceptor variant C/G;T snv 0.700 1.000 2 1996 2009
dbSNP: rs1566687244
rs1566687244
GCH1
2 0.925 0.120 14 54902383 missense variant G/T snv 0.700 1.000 2 1999 2005
dbSNP: rs104894445
rs104894445
GCH1
2 0.925 0.120 14 54845843 missense variant C/T snv 0.020 1.000 2 2004 2019
dbSNP: rs1418922853
rs1418922853
GCH1
2 0.925 0.120 14 54845780 missense variant A/C;T snv 4.0E-06 0.700 1.000 3 1999 2011
dbSNP: rs1555358507
rs1555358507
GCH1
2 0.925 0.120 14 54845767 splice donor variant C/A;T snv 0.700 1.000 3 1998 2009
dbSNP: rs104894435
rs104894435
GCH1
3 0.882 0.120 14 54902341 missense variant C/T snv 0.700 1.000 4 1998 2008
dbSNP: rs988395114
rs988395114
GCH1
2 0.925 0.120 14 54845787 missense variant C/T snv 0.800 1.000 9 1996 2013
dbSNP: rs104894442
rs104894442
GCH1
3 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 0.700 1.000 15 1994 2006
dbSNP: rs1348562494
rs1348562494
GCH1
1 1.000 0.040 14 54844133 missense variant T/C snv 7.0E-06 0.700 1.000 15 1994 2006
dbSNP: rs1393095176
rs1393095176
GCH1
1 1.000 0.040 14 54902321 missense variant C/T snv 0.700 1.000 15 1994 2006