Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745756308
rs745756308
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 GeneticVariation BEFREE Leucine 208 in human histamine N-methyltransferase emerges as a hotspot for protein stability rationalizing the role of the L208P variant in intellectual disability. 27769936

2017

dbSNP: rs745756308
rs745756308
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.020 GeneticVariation BEFREE We performed autozygosity mapping followed by targeted exome sequencing and identified two homozygous HNMT alterations, p.Gly60Asp and p.Leu208Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unrelated consanguineous families of Turkish and Kurdish ancestry, respectively. 26206890

2015