rs398124292

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;A)	3	carrier of a methylmalonic aciduria allele
(A;A)	8	methylmalonic aciduria, cblC type

Reference

GRCh38 38.1/141

Chromosome

1

Position

45507545

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs398124292
dbSNP (classic)	rs398124292
ClinGen	rs398124292
ebi	rs398124292
HLI	rs398124292
Exac	rs398124292
Gnomad	rs398124292
Varsome	rs398124292
LitVar	rs398124292
Map	rs398124292
PheGenI	rs398124292
Biobank	rs398124292
1000 genomes	rs398124292
hgdp	rs398124292
ensembl	rs398124292
geneview	rs398124292
scholar	rs398124292
google	rs398124292
pharmgkb	rs398124292
gwascentral	rs398124292
openSNP	rs398124292
23andMe	rs398124292
SNPshot	rs398124292
SNPdbe	rs398124292
MSV3d	rs398124292
GWAS Ctlg	rs398124292

Max Magnitude

8

aka c.271dupA

ClinVar
Risk	Rs398124292(A;A)
Alt	Rs398124292(A;A)
Reference	Rs398124292(-;-)
Significance	Pathogenic
Disease	Methylmalonic acidemia with homocystinuria not provided Bull's eye maculopathy Disorders of Intracellular Cobalamin Metabolism
Variation	info
Gene	MMACHC
CLNDBN	Methylmalonic acidemia with homocystinuria not provided Bull's eye maculopathy Disorders of Intracellular Cobalamin Metabolism
Reversed	0
HGVS	NC_000001.10:g.45973217dupA
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000001486.5, RCV000081737.7, RCV000203236.1, RCV000308836.1,