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rs796051996

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796051996(A;A)
Make rs796051996(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position45508355
GeneMMACHC
is asnp
is mentioned by
dbSNPrs796051996
ebirs796051996
HLIrs796051996
Exacrs796051996
Varsomers796051996
Maprs796051996
PheGenIrs796051996
hapmaprs796051996
1000 genomesrs796051996
hgdprs796051996
ensemblrs796051996
gopubmedrs796051996
geneviewrs796051996
scholarrs796051996
googlers796051996
pharmgkbrs796051996
gwascentralrs796051996
openSNPrs796051996
23andMers796051996
23andMe allrs796051996
SNP Nexus

SNPshotrs796051996
SNPdbers796051996
MSV3drs796051996
GWAS Ctlgrs796051996
Max Magnitude0
ClinVar
Risk rs796051996(A;A)
Alt rs796051996(A;A)
Reference rs796051996(G;G)
Significance Pathogenic
Disease not provided Methylmalonic acidemia with homocystinuria
Variation info
Gene MMACHC
CLNDBN not provided Methylmalonic acidemia with homocystinuria
Reversed 0
HGVS NC_000001.10:g.45974027G>A
CLNSRC
CLNACC RCV000186027.1, RCV000190393.1,