Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918357
rs121918357
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
C 0.800 CausalMutation CLINVAR
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
A 0.800 GeneticVariation CLINVAR
dbSNP: rs267607085
rs267607085
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
C 0.800 CausalMutation CLINVAR
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037771
Disease:
Paraparesis, Spastic
T 0.710 CausalMutation CLINVAR
dbSNP: rs1060503425
rs1060503425
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
AGC 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0234979
Disease:
Dysdiadochokinesis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0028738
Disease:
Nystagmus
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0549629
Disease:
Abnormal delivery
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0026838
Disease:
Muscle Spasticity
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C4072903
Disease:
Primary Caesarian section
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0151786
Disease:
Muscle Weakness
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0751837
Disease:
Gait Ataxia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0029131
Disease:
Abnormality of the optic nerve
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0013362
Disease:
Dysarthria
T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0231686
Disease:
Gait, Unsteady
T 0.700 CausalMutation CLINVAR
dbSNP: rs1412575396
rs1412575396
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1412575396
rs1412575396
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567934754
rs1567934754
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
G 0.700 GeneticVariation CLINVAR
dbSNP: rs368373840
rs368373840
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
C 0.700 GeneticVariation CLINVAR
dbSNP: rs372981030
rs372981030
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
T 0.700 CausalMutation CLINVAR
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1832597
Disease:
Herniation of intervertebral nuclei
T 0.700 CausalMutation CLINVAR
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0238651
Disease:
Ankle clonus
T 0.700 CausalMutation CLINVAR
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1867864
Disease:
Poor fine motor coordination
T 0.700 CausalMutation CLINVAR