Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150418024
rs150418024
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0730362
Disease:
Disorder of macula of retina 		0.010 GeneticVariation BEFREE The p.Glu336Gln allele was found to be significantly enriched in patients with maculopathies and cone disorders (6/488) compared with ethnically matched controls (35/18 682; P < 0.0001), suggesting that it may act as a genetic modifier. 25227500 2015
dbSNP: rs559155109
rs559155109
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		0.010 GeneticVariation BEFREE We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. 25333361 2014
dbSNP: rs118203978
rs118203978
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		C 0.800 CausalMutation CLINVAR
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs150418024
rs150418024
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C4015371
Disease:
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs749704755
rs749704755
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs118203975
rs118203975
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs118203976
rs118203976
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs118203977
rs118203977
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs140948465
rs140948465
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1439582451
rs1439582451
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1460276679
rs1460276679
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1560747815
rs1560747815
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1560776422
rs1560776422
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs200319160
rs200319160
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 20826447 2010
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 22668694 2012
dbSNP: rs267607235
rs267607235
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732 2009
dbSNP: rs556661896
rs556661896
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs587778809
rs587778809
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs587778809
rs587778809
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587778809
rs587778809
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs587778809
rs587778809
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. 25439737 2015