Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515511(A;A)
Make rs397515511(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position18785676
GeneCOMP
is asnp
is mentioned by
dbSNPrs397515511
ebirs397515511
HLIrs397515511
Exacrs397515511
Varsomers397515511
Maprs397515511
PheGenIrs397515511
hapmaprs397515511
1000 genomesrs397515511
hgdprs397515511
ensemblrs397515511
gopubmedrs397515511
geneviewrs397515511
scholarrs397515511
googlers397515511
pharmgkbrs397515511
gwascentralrs397515511
openSNPrs397515511
23andMers397515511
23andMe allrs397515511
SNP Nexus

SNPshotrs397515511
SNPdbers397515511
MSV3drs397515511
GWAS Ctlgrs397515511
Max Magnitude0
ClinVar
Risk rs397515511(A;A)
Alt rs397515511(A;A)
Reference rs397515511(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.18896486G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055750.1,