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rs2904551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs2904551(A;G)
Make rs2904551(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position18918421
GenePRODH
is asnp
is mentioned by
dbSNPrs2904551
dbSNP (classic)rs2904551
ClinGenrs2904551
ebirs2904551
HLIrs2904551
Exacrs2904551
Gnomadrs2904551
Varsomers2904551
LitVarrs2904551
Maprs2904551
PheGenIrs2904551
Biobankrs2904551
1000 genomesrs2904551
hgdprs2904551
ensemblrs2904551
geneviewrs2904551
scholarrs2904551
googlers2904551
pharmgkbrs2904551
gwascentralrs2904551
openSNPrs2904551
23andMers2904551
SNPshotrs2904551
SNPdbers2904551
MSV3drs2904551
GWAS Ctlgrs2904551
GMAF0.002755
Max Magnitude0
OMIM606810
DescHYPERPROLINEMIA, TYPE I
Variant0004
Relatedalso


ClinVar
Risk rs2904551(G;G)
Alt rs2904551(G;G)
Reference Rs2904551(A;A)
Significance Other
Disease Proline dehydrogenase deficiency Schizophrenia 4 not provided
Variation info
Gene PRODH
CLNDBN Proline dehydrogenase deficiency Schizophrenia 4 not provided
Reversed 0
HGVS NC_000022.10:g.18905934A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004218.3, RCV000004219.3, RCV000412946.1,