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rs193919334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193919334(C;G)
Make rs193919334(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position18913492
GenePRODH
is asnp
is mentioned by
dbSNPrs193919334
ebirs193919334
HLIrs193919334
Exacrs193919334
Varsomers193919334
Maprs193919334
PheGenIrs193919334
hapmaprs193919334
1000 genomesrs193919334
hgdprs193919334
ensemblrs193919334
gopubmedrs193919334
geneviewrs193919334
scholarrs193919334
googlers193919334
pharmgkbrs193919334
gwascentralrs193919334
openSNPrs193919334
23andMers193919334
23andMe allrs193919334
SNP Nexus

SNPshotrs193919334
SNPdbers193919334
MSV3drs193919334
GWAS Ctlgrs193919334
Max Magnitude0
ClinVar
Risk rs193919334(A,G,T;A,G,T)
Alt rs193919334(A,G,T;A,G,T)
Reference rs193919334(C;C)
Significance Pathogenic
Disease Proline dehydrogenase deficiency
Variation info
Gene PRODH
CLNDBN Proline dehydrogenase deficiency
Reversed 1
HGVS NC_000022.10:g.18901005G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004226.4,