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rs779536510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs779536510(-;A)
Make rs779536510(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position18874481
GeneALDH4A1
is asnp
is mentioned by
dbSNPrs779536510
ClinGenrs779536510
ebirs779536510
HLIrs779536510
Exacrs779536510
Varsomers779536510
Maprs779536510
PheGenIrs779536510
hapmaprs779536510
1000 genomesrs779536510
hgdprs779536510
ensemblrs779536510
gopubmedrs779536510
geneviewrs779536510
scholarrs779536510
googlers779536510
pharmgkbrs779536510
gwascentralrs779536510
openSNPrs779536510
23andMers779536510
23andMe allrs779536510
SNP Nexus

SNPshotrs779536510
SNPdbers779536510
MSV3drs779536510
GWAS Ctlgrs779536510
Max Magnitude0
ClinVar
Risk rs779536510(A;A)
Alt rs779536510(A;A)
Reference Rs779536510(-;-)
Significance Pathogenic
Disease Deficiency of pyrroline-5-carboxylate reductase
Variation info
Gene ALDH4A1
CLNDBN Deficiency of pyrroline-5-carboxylate reductase
Reversed 0
HGVS NC_000001.10:g.19200976dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004209.3,