Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376103979
rs376103979
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C2680446
Disease:
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
G 0.800 CausalMutation CLINVAR
dbSNP: rs376103979
rs376103979
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C2680446
Disease:
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT
dbSNP: rs515726205
rs515726205
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
T 0.800 CausalMutation CLINVAR
dbSNP: rs515726205
rs515726205
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
0.800 GeneticVariation UNIPROT
dbSNP: rs752450983
rs752450983
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
T 0.800 CausalMutation CLINVAR
dbSNP: rs146170087
rs146170087
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0013421
Disease:
Dystonia
C 0.710 CausalMutation CLINVAR
dbSNP: rs1064797235
rs1064797235
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1264612218
rs1264612218
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
0.700 GeneticVariation UNIPROT
dbSNP: rs1352744778
rs1352744778
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
C 0.700 CausalMutation CLINVAR
dbSNP: rs1384930997
rs1384930997
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
0.700 GeneticVariation UNIPROT
dbSNP: rs1424291552
rs1424291552
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0027746
Disease:
Nerve Degeneration
G 0.700 CausalMutation CLINVAR
dbSNP: rs1424291552
rs1424291552
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
G 0.700 CausalMutation CLINVAR
dbSNP: rs146170087
rs146170087
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0040822
Disease:
Tremor
C 0.700 CausalMutation CLINVAR
dbSNP: rs146170087
rs146170087
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
C 0.700 GeneticVariation CLINVAR
dbSNP: rs146170087
rs146170087
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0241688
Disease:
Peripheral visual field loss
C 0.700 CausalMutation CLINVAR
dbSNP: rs146170087
rs146170087
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0234985
Disease:
Mental deterioration
C 0.700 CausalMutation CLINVAR
dbSNP: rs146170087
rs146170087
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C4024790
Disease:
Adult-onset night blindness
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555714808
rs1555714808
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1568326754
rs1568326754
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
CA 0.700 GeneticVariation CLINVAR
dbSNP: rs200133991
rs200133991
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0027746
Disease:
Nerve Degeneration
T 0.700 GeneticVariation CLINVAR
dbSNP: rs200133991
rs200133991
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
0.700 GeneticVariation UNIPROT
dbSNP: rs376103979
rs376103979
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C3280371
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
G 0.700 GeneticVariation CLINVAR
dbSNP: rs397514477
rs397514477
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C4023583
Disease:
Abnormality of iron homeostasis
A 0.700 CausalMutation CLINVAR
dbSNP: rs515726205
rs515726205
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C4024790
Disease:
Adult-onset night blindness
T 0.700 CausalMutation CLINVAR
dbSNP: rs515726205
rs515726205
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12
CUI: C0241688
Disease:
Peripheral visual field loss
T 0.700 CausalMutation CLINVAR