rs118203983

Orientation

plus

Stabilized

plus

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

Make rs118203983(C;T)

Make rs118203983(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

24528057

Gene

ALDH5A1

is a	snp
is	mentioned by
dbSNP	rs118203983
dbSNP (classic)	rs118203983
ClinGen	rs118203983
ebi	rs118203983
HLI	rs118203983
Exac	rs118203983
Gnomad	rs118203983
Varsome	rs118203983
LitVar	rs118203983
Map	rs118203983
PheGenI	rs118203983
Biobank	rs118203983
1000 genomes	rs118203983
hgdp	rs118203983
ensembl	rs118203983
geneview	rs118203983
scholar	rs118203983
google	rs118203983
pharmgkb	rs118203983
gwascentral	rs118203983
openSNP	rs118203983
23andMe	rs118203983
SNPshot	rs118203983
SNPdbe	rs118203983
MSV3d	rs118203983
GWAS Ctlg	rs118203983

Max Magnitude

0

OMIM	610045
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118203983(T;T)
Alt	rs118203983(T;T)
Reference	Rs118203983(C;C)
Significance	Pathogenic
Disease	Succinate-semialdehyde dehydrogenase deficiency
Variation	info
Gene	ALDH5A1
CLNDBN	Succinate-semialdehyde dehydrogenase deficiency
Reversed	0
HGVS	NC_000006.11:g.24528285C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001423.2,