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rs121964982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964982(A;A)
Make rs121964982(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422223
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs121964982
ebirs121964982
HLIrs121964982
Exacrs121964982
Varsomers121964982
Maprs121964982
PheGenIrs121964982
hapmaprs121964982
1000 genomesrs121964982
hgdprs121964982
ensemblrs121964982
gopubmedrs121964982
geneviewrs121964982
scholarrs121964982
googlers121964982
pharmgkbrs121964982
gwascentralrs121964982
openSNPrs121964982
23andMers121964982
23andMe allrs121964982
SNP Nexus

SNPshotrs121964982
SNPdbers121964982
MSV3drs121964982
GWAS Ctlgrs121964982
Max Magnitude0
OMIM238310
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964982(A,T;A,T)
Alt rs121964982(A,T;A,T)
Reference rs121964982(G;G)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene NICN1 AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49459656C>A; NC_000003.11:g.49459656C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049638.1, RCV000012755.26,


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