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rs3970559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3970559(A;A)
Make rs3970559(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position18918386
GenePRODH
is asnp
is mentioned by
dbSNPrs3970559
ebirs3970559
HLIrs3970559
Exacrs3970559
Varsomers3970559
Maprs3970559
PheGenIrs3970559
hapmaprs3970559
1000 genomesrs3970559
hgdprs3970559
ensemblrs3970559
gopubmedrs3970559
geneviewrs3970559
scholarrs3970559
googlers3970559
pharmgkbrs3970559
gwascentralrs3970559
openSNPrs3970559
23andMers3970559
23andMe allrs3970559
SNP Nexus

SNPshotrs3970559
SNPdbers3970559
MSV3drs3970559
GWAS Ctlgrs3970559
GMAF0.01148
Max Magnitude0
OMIM606810
DescHYPERPROLINEMIA, TYPE I
Variant0002
Relatedalso
Neighborrs1807467
Distance6
Neighborrs2904551
Distance35


ClinVar
Risk rs3970559(A;A)
Alt rs3970559(A;A)
Reference rs3970559(G;G)
Significance Other
Disease Proline dehydrogenase deficiency Schizophrenia 4
Variation info
Gene PRODH
CLNDBN Proline dehydrogenase deficiency Schizophrenia 4
Reversed 0
HGVS NC_000022.10:g.18905899G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004214.4, RCV000004215.4,



GET Evidence
PRODH-R453C
aa_change Arg453Cys
aa_change_short R453C
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.010132
summary Associated with reduced proline oxidase activity, and may cause hyperprolemia in a recessive manner (when homozygous or compound heterozygous). Hyperprolemia, in turn, may be associated with schizophrenia.