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rs757386104

From SNPedia

Orientationplus
Geno Mag Summary
(TCC;TCC) 0 common in clinvar
Make rs757386104(-;-)
Make rs757386104(-;TCC)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position33387465
GenePEPD
is asnp
is mentioned by
dbSNPrs757386104
ebirs757386104
HLIrs757386104
Exacrs757386104
Varsomers757386104
Maprs757386104
PheGenIrs757386104
hapmaprs757386104
1000 genomesrs757386104
hgdprs757386104
ensemblrs757386104
gopubmedrs757386104
geneviewrs757386104
scholarrs757386104
googlers757386104
pharmgkbrs757386104
gwascentralrs757386104
openSNPrs757386104
23andMers757386104
23andMe allrs757386104
SNP Nexus

SNPshotrs757386104
SNPdbers757386104
MSV3drs757386104
GWAS Ctlgrs757386104
Max Magnitude0
ClinVar
Risk rs757386104(;)
Alt rs757386104(;)
Reference rs757386104(TCC;TCC)
Significance Pathogenic
Disease Prolidase deficiency
Variation info
Gene PEPD
CLNDBN Prolidase deficiency
Reversed 0
HGVS NC_000019.9:g.33878371_33878373delTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000238.5,