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rs2904552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2904552(C;T)
Make rs2904552(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position18918451
GenePRODH
is asnp
is mentioned by
dbSNPrs2904552
dbSNP (classic)rs2904552
ClinGenrs2904552
ebirs2904552
HLIrs2904552
Exacrs2904552
Gnomadrs2904552
Varsomers2904552
LitVarrs2904552
Maprs2904552
PheGenIrs2904552
Biobankrs2904552
1000 genomesrs2904552
hgdprs2904552
ensemblrs2904552
geneviewrs2904552
scholarrs2904552
googlers2904552
pharmgkbrs2904552
gwascentralrs2904552
openSNPrs2904552
23andMers2904552
SNPshotrs2904552
SNPdbers2904552
MSV3drs2904552
GWAS Ctlgrs2904552
GMAF0.05005
Max Magnitude0
OMIM606810
DescHYPERPROLINEMIA, TYPE I
Variant0007
Relatedalso



ClinVar
Risk rs2904552(T;T)
Alt rs2904552(T;T)
Reference Rs2904552(C;C)
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.18905964C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004224.5, RCV000004225.5,