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rs606231425

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231425(A;A)
Make rs606231425(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position45508830
GeneMMACHC
is asnp
is mentioned by
dbSNPrs606231425
ebirs606231425
HLIrs606231425
Exacrs606231425
Varsomers606231425
Maprs606231425
PheGenIrs606231425
hapmaprs606231425
1000 genomesrs606231425
hgdprs606231425
ensemblrs606231425
gopubmedrs606231425
geneviewrs606231425
scholarrs606231425
googlers606231425
pharmgkbrs606231425
gwascentralrs606231425
openSNPrs606231425
23andMers606231425
23andMe allrs606231425
SNP Nexus

SNPshotrs606231425
SNPdbers606231425
MSV3drs606231425
GWAS Ctlgrs606231425
Max Magnitude0
ClinVar
Risk rs606231425(A;A)
Alt rs606231425(A;A)
Reference rs606231425(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.45974502G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148300.3,