rs387906314

Orientation

minus

Stabilized

minus

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

Make rs387906314(-;-)

Make rs387906314(-;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

18902503

Gene

ALDH4A1

is a	snp
is	mentioned by
dbSNP	rs387906314
dbSNP (classic)	rs387906314
ClinGen	rs387906314
ebi	rs387906314
HLI	rs387906314
Exac	rs387906314
Gnomad	rs387906314
Varsome	rs387906314
LitVar	rs387906314
Map	rs387906314
PheGenI	rs387906314
Biobank	rs387906314
1000 genomes	rs387906314
hgdp	rs387906314
ensembl	rs387906314
geneview	rs387906314
scholar	rs387906314
google	rs387906314
pharmgkb	rs387906314
gwascentral	rs387906314
openSNP	rs387906314
23andMe	rs387906314
SNPshot	rs387906314
SNPdbe	rs387906314
MSV3d	rs387906314
GWAS Ctlg	rs387906314

Max Magnitude

0

ClinVar
Risk	rs387906314(-;-)
Alt	rs387906314(-;-)
Reference	Rs387906314(G;G)
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.19228997delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004211.2,