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rs181134220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs181134220(C;T)
Make rs181134220(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position49417974
GeneAMT
is asnp
is mentioned by
dbSNPrs181134220
ebirs181134220
HLIrs181134220
Exacrs181134220
Varsomers181134220
Maprs181134220
PheGenIrs181134220
hapmaprs181134220
1000 genomesrs181134220
hgdprs181134220
ensemblrs181134220
gopubmedrs181134220
geneviewrs181134220
scholarrs181134220
googlers181134220
pharmgkbrs181134220
gwascentralrs181134220
openSNPrs181134220
23andMers181134220
23andMe allrs181134220
SNP Nexus

SNPshotrs181134220
SNPdbers181134220
MSV3drs181134220
GWAS Ctlgrs181134220
Max Magnitude0
ClinVar
Risk rs181134220(T;T)
Alt rs181134220(T;T)
Reference rs181134220(C;C)
Significance Pathogenic
Disease Non-ketotic hyperglycinemia
Variation info
Gene AMT
CLNDBN Non-ketotic hyperglycinemia
Reversed 0
HGVS NC_000003.11:g.49455407C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012761.25,