rs779893448

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 rs779893448(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

45500335

Gene	CCDC163, MMACHC

is a	snp
is	mentioned by
dbSNP	rs779893448
dbSNP (classic)	rs779893448
ClinGen	rs779893448
ebi	rs779893448
HLI	rs779893448
Exac	rs779893448
Gnomad	rs779893448
Varsome	rs779893448
LitVar	rs779893448
Map	rs779893448
PheGenI	rs779893448
Biobank	rs779893448
1000 genomes	rs779893448
hgdp	rs779893448
ensembl	rs779893448
geneview	rs779893448
scholar	rs779893448
google	rs779893448
pharmgkb	rs779893448
gwascentral	rs779893448
openSNP	rs779893448
23andMe	rs779893448
SNPshot	rs779893448
SNPdbe	rs779893448
MSV3d	rs779893448
GWAS Ctlg	rs779893448

Max Magnitude

3

ClinVar
Risk	rs779893448(A;A)
Alt	rs779893448(A;A)
Reference	Rs779893448(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	MMACHC CCDC163
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.45966007G>A
CLNSRC
CLNACC	RCV000186022.1,