rs796051996

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 rs796051996(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

45508355

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs796051996
dbSNP (classic)	rs796051996
ClinGen	rs796051996
ebi	rs796051996
HLI	rs796051996
Exac	rs796051996
Gnomad	rs796051996
Varsome	rs796051996
LitVar	rs796051996
Map	rs796051996
PheGenI	rs796051996
Biobank	rs796051996
1000 genomes	rs796051996
hgdp	rs796051996
ensembl	rs796051996
geneview	rs796051996
scholar	rs796051996
google	rs796051996
pharmgkb	rs796051996
gwascentral	rs796051996
openSNP	rs796051996
23andMe	rs796051996
SNPshot	rs796051996
SNPdbe	rs796051996
MSV3d	rs796051996
GWAS Ctlg	rs796051996

Max Magnitude

3

ClinVar
Risk	rs796051996(A;A)
Alt	rs796051996(A;A)
Reference	Rs796051996(G;G)
Significance	Untested
Disease	Methylmalonic acidemia with homocystinuria
Variation	info
Gene	MMACHC
CLNDBN	Methylmalonic acidemia with homocystinuria
Reversed	0
HGVS	NC_000001.10:g.45974027G>A
CLNSRC
CLNACC	RCV000190393.1,