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rs758252808

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758252808(A;A)
Make rs758252808(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position137970206
GeneHNMT
is asnp
is mentioned by
dbSNPrs758252808
ebirs758252808
HLIrs758252808
Exacrs758252808
Varsomers758252808
Maprs758252808
PheGenIrs758252808
hapmaprs758252808
1000 genomesrs758252808
hgdprs758252808
ensemblrs758252808
gopubmedrs758252808
geneviewrs758252808
scholarrs758252808
googlers758252808
pharmgkbrs758252808
gwascentralrs758252808
openSNPrs758252808
23andMers758252808
23andMe allrs758252808
SNP Nexus

SNPshotrs758252808
SNPdbers758252808
MSV3drs758252808
GWAS Ctlgrs758252808
Max Magnitude0
ClinVar
Risk rs758252808(A;A)
Alt rs758252808(A;A)
Reference rs758252808(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene HNMT
CLNDBN Mental retardation, autosomal recessive 51
Reversed 0
HGVS NC_000002.11:g.138727776G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203518.1,