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rs370596113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 carrier of a methylmalonic aciduria allele
(T;T) 8 methylmalonic aciduria, cblC type
ReferenceGRCh38 38.1/141
Chromosome1
Position45508847
GeneMMACHC
is asnp
is mentioned by
dbSNPrs370596113
ebirs370596113
HLIrs370596113
Exacrs370596113
Varsomers370596113
Maprs370596113
PheGenIrs370596113
hapmaprs370596113
1000 genomesrs370596113
hgdprs370596113
ensemblrs370596113
gopubmedrs370596113
geneviewrs370596113
scholarrs370596113
googlers370596113
pharmgkbrs370596113
gwascentralrs370596113
openSNPrs370596113
23andMers370596113
23andMe allrs370596113
SNP Nexus

SNPshotrs370596113
SNPdbers370596113
MSV3drs370596113
GWAS Ctlgrs370596113
Max Magnitude8
ClinVar
Risk rs370596113(A,T;A,T)
Alt rs370596113(A,T;A,T)
Reference rs370596113(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene MMACHC
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.45974519C>T
CLNSRC HGMD
CLNACC RCV000081739.4,