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rs398124292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 2 carrier of a methylmalonic aciduria allele
(A;A) 8 methylmalonic aciduria, cblC type


Make rs398124292(-;-)
ReferenceGRCh38 38.1/141
Chromosome1
Position45507545
GeneMMACHC
is asnp
is mentioned by
dbSNPrs398124292
ebirs398124292
HLIrs398124292
Exacrs398124292
Varsomers398124292
Maprs398124292
PheGenIrs398124292
hapmaprs398124292
1000 genomesrs398124292
hgdprs398124292
ensemblrs398124292
gopubmedrs398124292
geneviewrs398124292
scholarrs398124292
googlers398124292
pharmgkbrs398124292
gwascentralrs398124292
openSNPrs398124292
23andMers398124292
23andMe allrs398124292
SNP Nexus

SNPshotrs398124292
SNPdbers398124292
MSV3drs398124292
GWAS Ctlgrs398124292
Max Magnitude8
ClinVar
Risk rs398124292(A;A)
Alt rs398124292(A;A)
Reference rs398124292(;)
Significance Pathogenic
Disease Methylmalonic acidemia with homocystinuria not provided Bull's eye maculopathy
Variation info
Gene MMACHC
CLNDBN Methylmalonic acidemia with homocystinuria not provided Bull's eye maculopathy
Reversed 0
HGVS NC_000001.10:g.45973217dupA
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000001486.4, RCV000081737.5, RCV000203236.1,