rs758477536

Orientation

plus

Stabilized

plus

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

Make rs758477536(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

45500333

Gene	CCDC163, MMACHC

is a	snp
is	mentioned by
dbSNP	rs758477536
dbSNP (classic)	rs758477536
ClinGen	rs758477536
ebi	rs758477536
HLI	rs758477536
Exac	rs758477536
Gnomad	rs758477536
Varsome	rs758477536
LitVar	rs758477536
Map	rs758477536
PheGenI	rs758477536
Biobank	rs758477536
1000 genomes	rs758477536
hgdp	rs758477536
ensembl	rs758477536
geneview	rs758477536
scholar	rs758477536
google	rs758477536
pharmgkb	rs758477536
gwascentral	rs758477536
openSNP	rs758477536
23andMe	rs758477536
SNPshot	rs758477536
SNPdbe	rs758477536
MSV3d	rs758477536
GWAS Ctlg	rs758477536

Max Magnitude

3

ClinVar
Risk	rs758477536(G;G) rs758477536(T;T)
Alt	rs758477536(G;G) rs758477536(T;T)
Reference	Rs758477536(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	MMACHC CCDC163
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.45966005A>G
CLNSRC
CLNACC	RCV000440436.1,