HCFC1, host cell factor C1, 3054

N. diseases: 100; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs318240758
rs318240758
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3
0.800 GeneticVariation UNIPROT A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 23000143 2012
dbSNP: rs318240758
rs318240758
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3
T 0.800 CausalMutation CLINVAR
dbSNP: rs2266887
rs2266887
Entrez Id: 3054;8269
Gene Symbol: HCFC1;TMEM187
HCFC1;TMEM187
CUI: C1287365
Disease:
Bilirubin level result
0.700 GeneticVariation GWASDB Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. 19419973 2009
dbSNP: rs2266887
rs2266887
Entrez Id: 3054;8269
Gene Symbol: HCFC1;TMEM187
HCFC1;TMEM187
CUI: C0344395
Disease:
Bilirubin measurement
0.700 GeneticVariation GWASDB Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. 19419973 2009
dbSNP: rs397515485
rs397515485
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs397515486
rs397515486
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs397515486
rs397515486
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0025362
Disease:
Mental Retardation
A 0.700 CausalMutation CLINVAR
dbSNP: rs397515487
rs397515487
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3
T 0.700 CausalMutation CLINVAR
dbSNP: rs398122908
rs398122908
Entrez Id: 3054;8269
Gene Symbol: HCFC1;TMEM187
HCFC1;TMEM187
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3
G 0.700 CausalMutation CLINVAR
dbSNP: rs869312686
rs869312686
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0796208
Disease:
MENTAL RETARDATION, X-LINKED 3
C 0.700 CausalMutation CLINVAR
dbSNP: rs869312686
rs869312686
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0454644
Disease:
Delayed speech and language development
C 0.700 CausalMutation CLINVAR
dbSNP: rs869312686
rs869312686
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0600104
Disease:
Obsessive compulsive behavior
C 0.700 CausalMutation CLINVAR
dbSNP: rs869312686
rs869312686
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0424503
Disease:
Dysmorphic facies
C 0.700 CausalMutation CLINVAR
dbSNP: rs869312686
rs869312686
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
CUI: C0856975
Disease:
Autistic behavior
C 0.700 CausalMutation CLINVAR