Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852937(C;T)
Make rs137852937(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position18877498
GeneALDH4A1
is asnp
is mentioned by
dbSNPrs137852937
ebirs137852937
HLIrs137852937
Exacrs137852937
Varsomers137852937
Maprs137852937
PheGenIrs137852937
hapmaprs137852937
1000 genomesrs137852937
hgdprs137852937
ensemblrs137852937
gopubmedrs137852937
geneviewrs137852937
scholarrs137852937
googlers137852937
pharmgkbrs137852937
gwascentralrs137852937
openSNPrs137852937
23andMers137852937
23andMe allrs137852937
SNP Nexus

SNPshotrs137852937
SNPdbers137852937
MSV3drs137852937
GWAS Ctlgrs137852937
Max Magnitude0
OMIM606811
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852937(G,T;G,T)
Alt rs137852937(G,T;G,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
CLNACC RCV000004210.3,