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rs397515513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515513(C;G)
Make rs397515513(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18784236
GeneCOMP
is asnp
is mentioned by
dbSNPrs397515513
ebirs397515513
HLIrs397515513
Exacrs397515513
Varsomers397515513
Maprs397515513
PheGenIrs397515513
hapmaprs397515513
1000 genomesrs397515513
hgdprs397515513
ensemblrs397515513
gopubmedrs397515513
geneviewrs397515513
scholarrs397515513
googlers397515513
pharmgkbrs397515513
gwascentralrs397515513
openSNPrs397515513
23andMers397515513
23andMe allrs397515513
SNP Nexus

SNPshotrs397515513
SNPdbers397515513
MSV3drs397515513
GWAS Ctlgrs397515513
Max Magnitude0
ClinVar
Risk rs397515513(G;G)
Alt rs397515513(G;G)
Reference rs397515513(C;C)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 1
Variation info
Gene COMP
CLNDBN Multiple epiphyseal dysplasia 1
Reversed 1
HGVS NC_000019.9:g.18895046G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055754.1,