AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519337
rs1057519337
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057519337
rs1057519337
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs765498367
rs765498367
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		T 0.700 CausalMutation CLINVAR