Have questions? Visit https://www.reddit.com/r/SNPedia

rs556977618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs556977618(G;T)
Make rs556977618(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position45507550
GeneMMACHC
is asnp
is mentioned by
dbSNPrs556977618
ebirs556977618
HLIrs556977618
Exacrs556977618
Varsomers556977618
Maprs556977618
PheGenIrs556977618
hapmaprs556977618
1000 genomesrs556977618
hgdprs556977618
ensemblrs556977618
gopubmedrs556977618
geneviewrs556977618
scholarrs556977618
googlers556977618
pharmgkbrs556977618
gwascentralrs556977618
openSNPrs556977618
23andMers556977618
23andMe allrs556977618
SNP Nexus

SNPshotrs556977618
SNPdbers556977618
MSV3drs556977618
GWAS Ctlgrs556977618
Max Magnitude0
ClinVar
Risk rs556977618(A,T;A,T)
Alt rs556977618(A,T;A,T)
Reference rs556977618(G;G)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria
Variation info
Gene MMACHC
CLNDBN Methylmalonic acidemia with homocystinuria
Reversed 0
HGVS NC_000001.10:g.45973222G>A; NC_000001.10:g.45973222G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000148299.3, RCV000148298.3,