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rs386833678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833678(-;-)
Make rs386833678(-;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422214
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs386833678
ebirs386833678
HLIrs386833678
Exacrs386833678
Varsomers386833678
Maprs386833678
PheGenIrs386833678
hapmaprs386833678
1000 genomesrs386833678
hgdprs386833678
ensemblrs386833678
gopubmedrs386833678
geneviewrs386833678
scholarrs386833678
googlers386833678
pharmgkbrs386833678
gwascentralrs386833678
openSNPrs386833678
23andMers386833678
23andMe allrs386833678
SNP Nexus

SNPshotrs386833678
SNPdbers386833678
MSV3drs386833678
GWAS Ctlgrs386833678
Max Magnitude0
ClinVar
Risk rs386833678(;)
Alt rs386833678(;)
Reference rs386833678(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.49459647delC
CLNSRC ClinVar
CLNACC RCV000049639.1,


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