rs72552258

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs72552258(A;A)

Make rs72552258(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74065249

Gene	ALDH6A1, BBOF1

is a	snp
is	mentioned by
dbSNP	rs72552258
dbSNP (classic)	rs72552258
ClinGen	rs72552258
ebi	rs72552258
HLI	rs72552258
Exac	rs72552258
Gnomad	rs72552258
Varsome	rs72552258
LitVar	rs72552258
Map	rs72552258
PheGenI	rs72552258
Biobank	rs72552258
1000 genomes	rs72552258
hgdp	rs72552258
ensembl	rs72552258
geneview	rs72552258
scholar	rs72552258
google	rs72552258
pharmgkb	rs72552258
gwascentral	rs72552258
openSNP	rs72552258
23andMe	rs72552258
SNPshot	rs72552258
SNPdbe	rs72552258
MSV3d	rs72552258
GWAS Ctlg	rs72552258

Max Magnitude

0

OMIM	603178
Desc
Variant	0001
Related	also

ClinVar
Risk	rs72552258(A;A)
Alt	rs72552258(A;A)
Reference	Rs72552258(G;G)
Significance	Pathogenic
Disease	Methylmalonate semialdehyde dehydrogenase deficiency
Variation	info
Gene	BBOF1 ALDH6A1
CLNDBN	Methylmalonate semialdehyde dehydrogenase deficiency
Reversed	1
HGVS	NC_000014.8:g.74531952C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006996.3,