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: rs121909675
rs121909675
GGCX
2 1.000 0.080 2 85553045 missense variant A/C snv 4.0E-06 7.0E-06 0.800 1.000 4 1998 2004
dbSNP: rs121909676
rs121909676
GGCX
1 1.000 0.080 2 85551967 missense variant C/A;G;T snv 1.2E-05; 4.4E-05 0.800 1.000 4 1998 2004
dbSNP: rs28928872
rs28928872
GGCX
1 1.000 0.080 2 85551919 missense variant C/G snv 0.800 1.000 4 1998 2004
dbSNP: rs786205096
rs786205096
GGCX
1 1.000 0.080 2 85559076 splice acceptor variant C/A snv 0.700 0