Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918336
rs121918336
PIKFYVE
0.800 GeneticVariation UNIPROT Sequencing analysis disclosed missense, frameshift, and/or protein-truncating mutations in 8 of 10 families with CFD that were studied, including 2256delA, 2274delCT, 2709C-->T (R851X), 3120C-->T (Q988X), IVS19-1G-->C, 3246G-->T (E1030X), 3270C-->T (R1038X), and 3466A-->G (K1103R). 15902656

2005
dbSNP: rs121918336
rs121918336
PIKFYVE
G 0.800 CausalMutation CLINVAR

dbSNP: rs780579562
rs780579562
PIKFYVE
G 0.700 GeneticVariation CLINVAR Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. 15902656

2005
dbSNP: rs121918337
rs121918337
PIKFYVE
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907335
rs387907335
PIKFYVE
G 0.700 CausalMutation CLINVAR

dbSNP: rs869312464
rs869312464
PIKFYVE
TA 0.700 CausalMutation CLINVAR

dbSNP: rs613872
rs613872
TCF4
0.030 GeneticVariation BEFREE TCF4 rs613872 is strongly associated with FCD in Caucasians but not in Chinese, which may suggest ethnic diversity in FCD SNP associations. 25299301

2014
dbSNP: rs613872
rs613872
TCF4
0.030 GeneticVariation BEFREE However, the most significantly associated SNP from the original report (rs613872) was not found to be present in Chinese FCD subjects. 21659310

2011
dbSNP: rs613872
rs613872
TCF4
0.030 GeneticVariation BEFREE The authors report the first independent replication of rs613872 conferring risk of late-onset FCD. 21245398

2011
dbSNP: rs80358192
rs80358192
COL8A2
0.020 GeneticVariation BEFREE In the L450W mutant, Descemet's membrane was several times thicker than normal and traversed by refractile strands and blebs that stained intensely for COL8A2, a feature also observed in late-onset FCD. 16303941

2005
dbSNP: rs80358192
rs80358192
COL8A2
0.020 GeneticVariation BEFREE The profile of age and disease severity for the L450W FCD kindred suggested that disease onset occurred in infancy, compared with an average age of onset of 50 years estimated for 201 familial FCD patients in 62 other families. 15914606

2005
dbSNP: rs2286812
rs2286812
LOC642484 ; LINC01905
0.010 GeneticVariation BEFREE A further 4 TCF4 SNPs (rs17595731, rs2286812, rs618869 and rs9954153) were also significantly associated with FCD in Caucasians (P<10-8). 25299301

2014
dbSNP: rs618869
rs618869
TCF4
0.010 GeneticVariation BEFREE A further 4 TCF4 SNPs (rs17595731, rs2286812, rs618869 and rs9954153) were also significantly associated with FCD in Caucasians (P<10-8). 25299301

2014
dbSNP: rs9954153
rs9954153 		0.010 GeneticVariation BEFREE A further 4 TCF4 SNPs (rs17595731, rs2286812, rs618869 and rs9954153) were also significantly associated with FCD in Caucasians (P<10-8). 25299301

2014
dbSNP: rs118020901
rs118020901
ZEB1
0.010 GeneticVariation BEFREE Importantly, segregation of a recurring p.Q840P mutation in a large, multigenerational FCD pedigree showed this allele to be sufficient but not necessary for pathogenesis. 20036349

2010
dbSNP: rs121918496
rs121918496
FGFR2
0.010 GeneticVariation BEFREE In addition, we report a novel mutation in exon B of the FGFR2 gene (Cys 342 Trp) in familial CFD and describe recurrent mutations at codon 342 as a particularly frequent event in CFD. 8522336

1995