rs118203984

Orientation

plus

Stabilized

plus

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

Make rs118203984(A;A)

Make rs118203984(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

24528049

Gene

ALDH5A1

is a	snp
is	mentioned by
dbSNP	rs118203984
dbSNP (classic)	rs118203984
ClinGen	rs118203984
ebi	rs118203984
HLI	rs118203984
Exac	rs118203984
Gnomad	rs118203984
Varsome	rs118203984
LitVar	rs118203984
Map	rs118203984
PheGenI	rs118203984
Biobank	rs118203984
1000 genomes	rs118203984
hgdp	rs118203984
ensembl	rs118203984
geneview	rs118203984
scholar	rs118203984
google	rs118203984
pharmgkb	rs118203984
gwascentral	rs118203984
openSNP	rs118203984
23andMe	rs118203984
SNPshot	rs118203984
SNPdbe	rs118203984
MSV3d	rs118203984
GWAS Ctlg	rs118203984

Max Magnitude

0

OMIM	610045
Desc
Variant	0005
Related	also

ClinVar
Risk	rs118203984(A;A)
Alt	rs118203984(A;A)
Reference	Rs118203984(G;G)
Significance	Pathogenic
Disease	Succinate-semialdehyde dehydrogenase deficiency
Variation	info
Gene	ALDH5A1
CLNDBN	Succinate-semialdehyde dehydrogenase deficiency
Reversed	0
HGVS	NC_000006.11:g.24528277G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001424.3,