rs104893849

Orientation

plus

Stabilized

plus

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

Make rs104893849(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

145646043

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs104893849
dbSNP (classic)	rs104893849
ClinGen	rs104893849
ebi	rs104893849
HLI	rs104893849
Exac	rs104893849
Gnomad	rs104893849
Varsome	rs104893849
LitVar	rs104893849
Map	rs104893849
PheGenI	rs104893849
Biobank	rs104893849
1000 genomes	rs104893849
hgdp	rs104893849
ensembl	rs104893849
geneview	rs104893849
scholar	rs104893849
google	rs104893849
pharmgkb	rs104893849
gwascentral	rs104893849
openSNP	rs104893849
23andMe	rs104893849
SNPshot	rs104893849
SNPdbe	rs104893849
MSV3d	rs104893849
GWAS Ctlg	rs104893849

Max Magnitude

3

OMIM	607481
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893849(G;G)
Alt	rs104893849(G;G)
Reference	Rs104893849(A;A)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblA type
Variation	info
Gene	MMAA
CLNDBN	Methylmalonic aciduria cblA type
Reversed	0
HGVS	NC_000004.11:g.146567195A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003309.2,