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rs747527726

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747527726(C;G)
Make rs747527726(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position45508981
GeneMMACHC
is asnp
is mentioned by
dbSNPrs747527726
dbSNP (classic)rs747527726
ClinGenrs747527726
ebirs747527726
HLIrs747527726
Exacrs747527726
Gnomadrs747527726
Varsomers747527726
LitVarrs747527726
Maprs747527726
PheGenIrs747527726
Biobankrs747527726
1000 genomesrs747527726
hgdprs747527726
ensemblrs747527726
geneviewrs747527726
scholarrs747527726
googlers747527726
pharmgkbrs747527726
gwascentralrs747527726
openSNPrs747527726
23andMers747527726
23andMe allrs747527726
SNPshotrs747527726
SNPdbers747527726
MSV3drs747527726
GWAS Ctlgrs747527726
Max Magnitude0
ClinVar
Risk rs747527726(G;G) rs747527726(T;T)
Alt rs747527726(G;G) rs747527726(T;T)
Reference Rs747527726(C;C)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria
Variation info
Gene MMACHC
CLNDBN Methylmalonic acidemia with homocystinuria
Reversed 0
HGVS NC_000001.10:g.45974653C>G
CLNSRC
CLNACC RCV000267790.1,