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rs745756308

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs745756308(C;C)
Make rs745756308(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position138013874
GeneHNMT
is asnp
is mentioned by
dbSNPrs745756308
ebirs745756308
HLIrs745756308
Exacrs745756308
Varsomers745756308
Maprs745756308
PheGenIrs745756308
hapmaprs745756308
1000 genomesrs745756308
hgdprs745756308
ensemblrs745756308
gopubmedrs745756308
geneviewrs745756308
scholarrs745756308
googlers745756308
pharmgkbrs745756308
gwascentralrs745756308
openSNPrs745756308
23andMers745756308
23andMe allrs745756308
SNP Nexus

SNPshotrs745756308
SNPdbers745756308
MSV3drs745756308
GWAS Ctlgrs745756308
Max Magnitude0
ClinVar
Risk rs745756308(C;C)
Alt rs745756308(C;C)
Reference rs745756308(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene LOC101928299 HNMT
CLNDBN Mental retardation, autosomal recessive 51
Reversed 0
HGVS NC_000002.11:g.138771444T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000203542.2,