Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782190413
rs782190413
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C4225246
Disease:
SURF1-related Charcot-Marie-Tooth disease type 4
A 0.800 CausalMutation CLINVAR
dbSNP: rs121918657
rs121918657
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease:
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs121918658
rs121918658
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease:
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs1319811735
rs1319811735
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease:
Leigh Disease
0.700 GeneticVariation UNIPROT
dbSNP: rs1391748504
rs1391748504
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease:
Leigh Disease
G 0.700 CausalMutation CLINVAR
dbSNP: rs1410388157
rs1410388157
Entrez Id: 6834;6835
Gene Symbol: SURF1;SURF2
SURF1;SURF2
CUI: C0023264
Disease:
Leigh Disease
CGCCCGCA 0.700 CausalMutation CLINVAR
dbSNP: rs1554768246
rs1554768246
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease:
Leigh Disease
CT 0.700 GeneticVariation CLINVAR
dbSNP: rs1554768333
rs1554768333
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease:
Leigh Disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554768333
rs1554768333
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease:
Leigh Disease
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564349087
rs1564349087
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0036572
Disease:
Seizures
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1564349087
rs1564349087
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease:
Leigh Disease
T 0.700 GeneticVariation CLINVAR
dbSNP: rs28933402
rs28933402
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease:
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs398122806
rs398122806
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease:
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
G 0.700 CausalMutation CLINVAR
dbSNP: rs781934508
rs781934508
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0013362
Disease:
Dysarthria
T 0.700 GeneticVariation CLINVAR
dbSNP: rs781934508
rs781934508
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0007758
Disease:
Cerebellar Ataxia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs781934508
rs781934508
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0234132
Disease:
Pyramidal sign
T 0.700 GeneticVariation CLINVAR
dbSNP: rs781934508
rs781934508
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0151786
Disease:
Muscle Weakness
T 0.700 GeneticVariation CLINVAR
dbSNP: rs782316919
rs782316919
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0013362
Disease:
Dysarthria
C 0.700 CausalMutation CLINVAR
dbSNP: rs782316919
rs782316919
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0234132
Disease:
Pyramidal sign
C 0.700 CausalMutation CLINVAR
dbSNP: rs782316919
rs782316919
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease:
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs782316919
rs782316919
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0151786
Disease:
Muscle Weakness
C 0.700 CausalMutation CLINVAR
dbSNP: rs782316919
rs782316919
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C4225246
Disease:
SURF1-related Charcot-Marie-Tooth disease type 4
C 0.700 CausalMutation CLINVAR
dbSNP: rs782316919
rs782316919
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0007758
Disease:
Cerebellar Ataxia
C 0.700 CausalMutation CLINVAR
dbSNP: rs782490558
rs782490558
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs782490558
rs782490558
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C1850599
Disease:
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
A 0.700 CausalMutation CLINVAR