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rs386833688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833688(-;-)
Make rs386833688(-;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422388
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs386833688
ebirs386833688
HLIrs386833688
Exacrs386833688
Varsomers386833688
Maprs386833688
PheGenIrs386833688
hapmaprs386833688
1000 genomesrs386833688
hgdprs386833688
ensemblrs386833688
gopubmedrs386833688
geneviewrs386833688
scholarrs386833688
googlers386833688
pharmgkbrs386833688
gwascentralrs386833688
openSNPrs386833688
23andMers386833688
23andMe allrs386833688
SNP Nexus

SNPshotrs386833688
SNPdbers386833688
MSV3drs386833688
GWAS Ctlgrs386833688
Max Magnitude0
ClinVar
Risk rs386833688(;)
Alt rs386833688(;)
Reference rs386833688(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.49459821delG
CLNSRC ClinVar
CLNACC RCV000049649.1,


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