rs796052000

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AACC)	3	Carrier of a methylmalonic aciduria type cblC mutation
(AACC;AACC)	0	common in clinvar
(CCAA;CCAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs796052000(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

45508263

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs796052000
dbSNP (classic)	rs796052000
ClinGen	rs796052000
ebi	rs796052000
HLI	rs796052000
Exac	rs796052000
Gnomad	rs796052000
Varsome	rs796052000
LitVar	rs796052000
Map	rs796052000
PheGenI	rs796052000
Biobank	rs796052000
1000 genomes	rs796052000
hgdp	rs796052000
ensembl	rs796052000
geneview	rs796052000
scholar	rs796052000
google	rs796052000
pharmgkb	rs796052000
gwascentral	rs796052000
openSNP	rs796052000
23andMe	rs796052000
SNPshot	rs796052000
SNPdbe	rs796052000
MSV3d	rs796052000
GWAS Ctlg	rs796052000

Max Magnitude

3

ClinVar
Risk	rs796052000(-;-) Rs796052000(CCAA;CCAA)
Alt	rs796052000(-;-) Rs796052000(CCAA;CCAA)
Reference	Rs796052000(AACC;AACC)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	MMACHC
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.45973935_45973938delAACC
CLNSRC
CLNACC	RCV000186035.1,