rs606231425

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a methylmalonic aciduria type cblC mutation
(G;G)	0	common in clinvar

Make rs606231425(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

45508830

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs606231425
dbSNP (classic)	rs606231425
ClinGen	rs606231425
ebi	rs606231425
HLI	rs606231425
Exac	rs606231425
Gnomad	rs606231425
Varsome	rs606231425
LitVar	rs606231425
Map	rs606231425
PheGenI	rs606231425
Biobank	rs606231425
1000 genomes	rs606231425
hgdp	rs606231425
ensembl	rs606231425
geneview	rs606231425
scholar	rs606231425
google	rs606231425
pharmgkb	rs606231425
gwascentral	rs606231425
openSNP	rs606231425
23andMe	rs606231425
SNPshot	rs606231425
SNPdbe	rs606231425
MSV3d	rs606231425
GWAS Ctlg	rs606231425

Max Magnitude

3

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,