Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767713084
rs767713084
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
0.800 GeneticVariation UNIPROT
dbSNP: rs767713084
rs767713084
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
T 0.800 CausalMutation CLINVAR
dbSNP: rs773432002
rs773432002
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
0.800 GeneticVariation UNIPROT
dbSNP: rs773432002
rs773432002
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
G 0.800 CausalMutation CLINVAR
dbSNP: rs371310428
rs371310428
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
T 0.700 CausalMutation CLINVAR
dbSNP: rs772450541
rs772450541
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
CUI: C4310641
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
C 0.700 CausalMutation CLINVAR