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rs398123034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123034(C;C)
Make rs398123034(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position6364524
GeneCLPP
is asnp
is mentioned by
dbSNPrs398123034
ebirs398123034
HLIrs398123034
Exacrs398123034
Varsomers398123034
Maprs398123034
PheGenIrs398123034
hapmaprs398123034
1000 genomesrs398123034
hgdprs398123034
ensemblrs398123034
gopubmedrs398123034
geneviewrs398123034
scholarrs398123034
googlers398123034
pharmgkbrs398123034
gwascentralrs398123034
openSNPrs398123034
23andMers398123034
23andMe allrs398123034
SNP Nexus

SNPshotrs398123034
SNPdbers398123034
MSV3drs398123034
GWAS Ctlgrs398123034
Max Magnitude0
ClinVar
Risk rs398123034(A,C;A,C)
Alt rs398123034(A,C;A,C)
Reference rs398123034(G;G)
Significance Pathogenic
Disease Perrault syndrome 3
Variation info
Gene CLPP
CLNDBN Perrault syndrome 3
Reversed 0
HGVS NC_000019.9:g.6364535G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000049283.4,