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rs587776889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776889(A;A)
Make rs587776889(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position45508975
GeneMMACHC
is asnp
is mentioned by
dbSNPrs587776889
ebirs587776889
HLIrs587776889
Exacrs587776889
Varsomers587776889
Maprs587776889
PheGenIrs587776889
hapmaprs587776889
1000 genomesrs587776889
hgdprs587776889
ensemblrs587776889
gopubmedrs587776889
geneviewrs587776889
scholarrs587776889
googlers587776889
pharmgkbrs587776889
gwascentralrs587776889
openSNPrs587776889
23andMers587776889
23andMe allrs587776889
SNP Nexus

SNPshotrs587776889
SNPdbers587776889
MSV3drs587776889
GWAS Ctlgrs587776889
Max Magnitude0
ClinVar
Risk rs587776889(A;A)
Alt rs587776889(A;A)
Reference rs587776889(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.45974647G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023785.2,