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rs121964983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121964983(A;G)
Make rs121964983(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position49422237
GeneAMT, NICN1
is asnp
is mentioned by
dbSNPrs121964983
ebirs121964983
HLIrs121964983
Exacrs121964983
Varsomers121964983
Maprs121964983
PheGenIrs121964983
hapmaprs121964983
1000 genomesrs121964983
hgdprs121964983
ensemblrs121964983
gopubmedrs121964983
geneviewrs121964983
scholarrs121964983
googlers121964983
pharmgkbrs121964983
gwascentralrs121964983
openSNPrs121964983
23andMers121964983
23andMe allrs121964983
SNP Nexus

SNPshotrs121964983
SNPdbers121964983
MSV3drs121964983
GWAS Ctlgrs121964983
Max Magnitude0
OMIM238310
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964983(G;G)
Alt rs121964983(G;G)
Reference rs121964983(A;A)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene NICN1 AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 1
HGVS NC_000003.11:g.49459670T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012756.19,