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: rs104894433
rs104894433
GCH1
1 1.000 0.040 14 54902402 missense variant G/A;C;T snv 4.0E-06; 8.0E-06 0.800 1.000 16 1994 2011
dbSNP: rs104894437
rs104894437
GCH1
1 1.000 0.040 14 54865379 missense variant T/A snv 0.800 1.000 16 1994 2011
dbSNP: rs104894438
rs104894438
GCH1
1 1.000 0.040 14 54845792 missense variant C/T snv 0.800 1.000 16 1994 2011
dbSNP: rs104894440
rs104894440
GCH1
1 1.000 0.040 14 54865349 missense variant T/G snv 0.800 1.000 16 1994 2011
dbSNP: rs104894441
rs104894441
GCH1
1 1.000 0.040 14 54865376 missense variant A/T snv 0.800 1.000 16 1994 2011
dbSNP: rs41298442
rs41298442
GCH1
3 0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 0.800 1.000 16 1994 2011
dbSNP: rs988395114
rs988395114
GCH1
2 0.925 0.120 14 54845787 missense variant C/T snv 0.800 1.000 9 1996 2013
dbSNP: rs41298432
rs41298432
GCH1
1 1.000 0.040 14 54902596 missense variant G/A snv 4.3E-03 3.9E-03 0.700 1.000 16 1994 2011
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
dbSNP: rs762208304
rs762208304
GCH1
1 1.000 0.040 14 54845823 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 15 1994 2006
dbSNP: rs104894435
rs104894435
GCH1
3 0.882 0.120 14 54902341 missense variant C/T snv 0.700 1.000 4 1998 2008
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: 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: 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