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rs747700126

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747700126(C;G)
Make rs747700126(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position33463032
GenePEPD
is asnp
is mentioned by
dbSNPrs747700126
ebirs747700126
HLIrs747700126
Exacrs747700126
Varsomers747700126
Maprs747700126
PheGenIrs747700126
hapmaprs747700126
1000 genomesrs747700126
hgdprs747700126
ensemblrs747700126
gopubmedrs747700126
geneviewrs747700126
scholarrs747700126
googlers747700126
pharmgkbrs747700126
gwascentralrs747700126
openSNPrs747700126
23andMers747700126
23andMe allrs747700126
SNP Nexus

SNPshotrs747700126
SNPdbers747700126
MSV3drs747700126
GWAS Ctlgrs747700126
Max Magnitude0
ClinVar
Risk rs747700126(A,G;A,G)
Alt rs747700126(A,G;A,G)
Reference rs747700126(C;C)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 0
HGVS NC_000019.9:g.33953938C>G
CLNSRC
CLNACC RCV000195145.1,