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rs386833680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833680(C;T)
Make rs386833680(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422132
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs386833680
ebirs386833680
HLIrs386833680
Exacrs386833680
Varsomers386833680
Maprs386833680
PheGenIrs386833680
hapmaprs386833680
1000 genomesrs386833680
hgdprs386833680
ensemblrs386833680
gopubmedrs386833680
geneviewrs386833680
scholarrs386833680
googlers386833680
pharmgkbrs386833680
gwascentralrs386833680
openSNPrs386833680
23andMers386833680
23andMe allrs386833680
SNP Nexus

SNPshotrs386833680
SNPdbers386833680
MSV3drs386833680
GWAS Ctlgrs386833680
Max Magnitude0
ClinVar
Risk rs386833680(T;T)
Alt rs386833680(T;T)
Reference rs386833680(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.49459565G>A
CLNSRC ClinVar
CLNACC RCV000049641.1,


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