rs137852937

Orientation

minus

Stabilized

minus

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

Make rs137852937(C;T)

Make rs137852937(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

18877498

Gene

ALDH4A1

is a	snp
is	mentioned by
dbSNP	rs137852937
dbSNP (classic)	rs137852937
ClinGen	rs137852937
ebi	rs137852937
HLI	rs137852937
Exac	rs137852937
Gnomad	rs137852937
Varsome	rs137852937
LitVar	rs137852937
Map	rs137852937
PheGenI	rs137852937
Biobank	rs137852937
1000 genomes	rs137852937
hgdp	rs137852937
ensembl	rs137852937
geneview	rs137852937
scholar	rs137852937
google	rs137852937
pharmgkb	rs137852937
gwascentral	rs137852937
openSNP	rs137852937
23andMe	rs137852937
SNPshot	rs137852937
SNPdbe	rs137852937
MSV3d	rs137852937
GWAS Ctlg	rs137852937

Max Magnitude

0

OMIM	606811
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852937(G;G) rs137852937(T;T)
Alt	rs137852937(G;G) rs137852937(T;T)
Reference	Rs137852937(C;C)
Significance	Pathogenic
Disease	Deficiency of pyrroline-5-carboxylate reductase
Variation	info
Gene	ALDH4A1
CLNDBN	Deficiency of pyrroline-5-carboxylate reductase
Reversed	1
HGVS	NC_000001.10:g.19203992G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004210.3,