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: rs104894435
rs104894435
GCH1
3 0.882 0.120 14 54902341 missense variant C/T snv 0.800 1.000 5 1995 2008
dbSNP: rs104894445
rs104894445
GCH1
2 0.925 0.120 14 54845843 missense variant C/T snv 0.800 1.000 3 1995 2017
dbSNP: rs104894443
rs104894443
GCH1
2 0.925 0.120 14 54844137 missense variant C/T snv 0.800 1.000 2 1995 1998
dbSNP: rs988395114
rs988395114
GCH1
2 0.925 0.120 14 54845787 missense variant C/T snv 0.700 1.000 8 1996 2013
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: rs104894434
rs104894434
GCH1
2 0.925 0.120 14 54844108 missense variant A/G snv 1.6E-05 2.1E-05 0.700 1.000 2 1995 1998
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: rs41298442
rs41298442
GCH1
3 0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 0.700 1.000 2 1995 1998
dbSNP: rs1555362845
rs1555362845
GCH1
2 0.925 0.120 14 54902467 frameshift variant AGCTCGTTATCC/T delins 0.700 0
dbSNP: rs1566658823
rs1566658823
GCH1
4 1.000 0.120 14 54844138 missense variant A/G snv 0.700 0
dbSNP: rs1566687321
rs1566687321
GCH1
2 0.925 0.120 14 54902441 frameshift variant AGGC/- del 0.700 0