rs104893851

Orientation

plus

Stabilized

plus

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

Make rs104893851(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

145639572

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs104893851
dbSNP (classic)	rs104893851
ClinGen	rs104893851
ebi	rs104893851
HLI	rs104893851
Exac	rs104893851
Gnomad	rs104893851
Varsome	rs104893851
LitVar	rs104893851
Map	rs104893851
PheGenI	rs104893851
Biobank	rs104893851
1000 genomes	rs104893851
hgdp	rs104893851
ensembl	rs104893851
geneview	rs104893851
scholar	rs104893851
google	rs104893851
pharmgkb	rs104893851
gwascentral	rs104893851
openSNP	rs104893851
23andMe	rs104893851
SNPshot	rs104893851
SNPdbe	rs104893851
MSV3d	rs104893851
GWAS Ctlg	rs104893851

Max Magnitude

3

OMIM	607481
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893851(T;T)
Alt	rs104893851(T;T)
Reference	Rs104893851(C;C)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblA type not provided
Variation	info
Gene	MMAA
CLNDBN	Methylmalonic aciduria cblA type not provided
Reversed	0
HGVS	NC_000004.11:g.146560724C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003310.5, RCV000186012.3,