Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203978
rs118203978
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7
0.800 GeneticVariation UNIPROT
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: rs1162750836
rs1162750836
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7
0.700 GeneticVariation UNIPROT
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: 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: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses
T 0.700 CausalMutation CLINVAR
dbSNP: rs724159970
rs724159970
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7
A 0.700 CausalMutation CLINVAR
dbSNP: rs724159970
rs724159970
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C4015371
Disease:
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
A 0.700 CausalMutation CLINVAR
dbSNP: rs724159971
rs724159971
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7
A 0.700 GeneticVariation CLINVAR
dbSNP: rs724159971
rs724159971
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C4015371
Disease:
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
A 0.700 GeneticVariation CLINVAR
dbSNP: rs727502800
rs727502800
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C4015371
Disease:
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
G 0.700 CausalMutation CLINVAR
dbSNP: rs727502800
rs727502800
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
CUI: C1838571
Disease:
Ceroid Lipofuscinosis, Neuronal, 7
G 0.700 CausalMutation CLINVAR