Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775085213
rs775085213
Entrez Id: 388662
Gene Symbol: SLC6A17
SLC6A17
CUI: C4225395
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 		0.800 GeneticVariation UNIPROT Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. 25704603 2015
dbSNP: rs775085213
rs775085213
Entrez Id: 388662
Gene Symbol: SLC6A17
SLC6A17
CUI: C4225395
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 		A 0.800 CausalMutation CLINVAR