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

rs387906314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906314(-;-)
Make rs387906314(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position18902503
GeneALDH4A1
is asnp
is mentioned by
dbSNPrs387906314
ebirs387906314
HLIrs387906314
Exacrs387906314
Varsomers387906314
Maprs387906314
PheGenIrs387906314
hapmaprs387906314
1000 genomesrs387906314
hgdprs387906314
ensemblrs387906314
gopubmedrs387906314
geneviewrs387906314
scholarrs387906314
googlers387906314
pharmgkbrs387906314
gwascentralrs387906314
openSNPrs387906314
23andMers387906314
23andMe allrs387906314
SNP Nexus

SNPshotrs387906314
SNPdbers387906314
MSV3drs387906314
GWAS Ctlgrs387906314
Max Magnitude0
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,