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rs386833687

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833687(-;-)
Make rs386833687(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422390
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs386833687
ebirs386833687
HLIrs386833687
Exacrs386833687
Varsomers386833687
Maprs386833687
PheGenIrs386833687
hapmaprs386833687
1000 genomesrs386833687
hgdprs386833687
ensemblrs386833687
gopubmedrs386833687
geneviewrs386833687
scholarrs386833687
googlers386833687
pharmgkbrs386833687
gwascentralrs386833687
openSNPrs386833687
23andMers386833687
23andMe allrs386833687
SNP Nexus

SNPshotrs386833687
SNPdbers386833687
MSV3drs386833687
GWAS Ctlgrs386833687
Max Magnitude0
ClinVar
Risk rs386833687(;)
Alt rs386833687(;)
Reference rs386833687(G;G)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene NICN1 AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49459823delC
CLNSRC ClinVar
CLNACC RCV000049648.1,


[PMID 16450403] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.