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rs386833679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833679(C;T)
Make rs386833679(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422145
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs386833679
ebirs386833679
HLIrs386833679
Exacrs386833679
Varsomers386833679
Maprs386833679
PheGenIrs386833679
hapmaprs386833679
1000 genomesrs386833679
hgdprs386833679
ensemblrs386833679
gopubmedrs386833679
geneviewrs386833679
scholarrs386833679
googlers386833679
pharmgkbrs386833679
gwascentralrs386833679
openSNPrs386833679
23andMers386833679
23andMe allrs386833679
SNP Nexus

SNPshotrs386833679
SNPdbers386833679
MSV3drs386833679
GWAS Ctlgrs386833679
Max Magnitude0
ClinVar
Risk rs386833679(T;T)
Alt rs386833679(T;T)
Reference rs386833679(C;C)
Significance Probable-Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene NICN1 AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49459578G>A
CLNSRC ClinVar
CLNACC RCV000049640.1,


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