rs104893846

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 rs104893846(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

145639422

Gene

MMAA

is a	snp
is	mentioned by
dbSNP	rs104893846
dbSNP (classic)	rs104893846
ClinGen	rs104893846
ebi	rs104893846
HLI	rs104893846
Exac	rs104893846
Gnomad	rs104893846
Varsome	rs104893846
LitVar	rs104893846
Map	rs104893846
PheGenI	rs104893846
Biobank	rs104893846
1000 genomes	rs104893846
hgdp	rs104893846
ensembl	rs104893846
geneview	rs104893846
scholar	rs104893846
google	rs104893846
pharmgkb	rs104893846
gwascentral	rs104893846
openSNP	rs104893846
23andMe	rs104893846
SNPshot	rs104893846
SNPdbe	rs104893846
MSV3d	rs104893846
GWAS Ctlg	rs104893846

Max Magnitude

3

OMIM	607481
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893846(T;T)
Alt	rs104893846(T;T)
Reference	Rs104893846(C;C)
Significance	Pathogenic
Disease	Methylmalonic aciduria cblA type
Variation	info
Gene	MMAA
CLNDBN	Methylmalonic aciduria cblA type
Reversed	0
HGVS	NC_000004.11:g.146560574C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003308.2,