rs796065046

Orientation

minus

Stabilized

minus

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

Make rs796065046(C;T)

Make rs796065046(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

74072539

Gene	ALDH6A1, BBOF1

is a	snp
is	mentioned by
dbSNP	rs796065046
dbSNP (classic)	rs796065046
ClinGen	rs796065046
ebi	rs796065046
HLI	rs796065046
Exac	rs796065046
Gnomad	rs796065046
Varsome	rs796065046
LitVar	rs796065046
Map	rs796065046
PheGenI	rs796065046
Biobank	rs796065046
1000 genomes	rs796065046
hgdp	rs796065046
ensembl	rs796065046
geneview	rs796065046
scholar	rs796065046
google	rs796065046
pharmgkb	rs796065046
gwascentral	rs796065046
openSNP	rs796065046
23andMe	rs796065046
SNPshot	rs796065046
SNPdbe	rs796065046
MSV3d	rs796065046
GWAS Ctlg	rs796065046

Max Magnitude

0

ClinVar
Risk	rs796065046(T;T)
Alt	rs796065046(T;T)
Reference	Rs796065046(C;C)
Significance	Pathogenic
Disease	Methylmalonate semialdehyde dehydrogenase deficiency
Variation	info
Gene	ALDH6A1
CLNDBN	Methylmalonate semialdehyde dehydrogenase deficiency
Reversed	1
HGVS	NC_000014.8:g.74539242G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190333.3,