rs864309729

Orientation

plus

Stabilized

plus

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

Make rs864309729(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

145642485

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs864309729
dbSNP (classic)	rs864309729
ClinGen	rs864309729
ebi	rs864309729
HLI	rs864309729
Exac	rs864309729
Gnomad	rs864309729
Varsome	rs864309729
LitVar	rs864309729
Map	rs864309729
PheGenI	rs864309729
Biobank	rs864309729
1000 genomes	rs864309729
hgdp	rs864309729
ensembl	rs864309729
geneview	rs864309729
scholar	rs864309729
google	rs864309729
pharmgkb	rs864309729
gwascentral	rs864309729
openSNP	rs864309729
23andMe	rs864309729
SNPshot	rs864309729
SNPdbe	rs864309729
MSV3d	rs864309729
GWAS Ctlg	rs864309729

Max Magnitude

3

ClinVar
Risk	rs864309729(C;C)
Alt	rs864309729(C;C)
Reference	Rs864309729(G;G)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblA type
Variation	info
Gene	MMAA
CLNDBN	Methylmalonic aciduria cblA type
Reversed	0
HGVS	NC_000004.11:g.146563637G>C
CLNSRC
CLNACC	RCV000203317.2,