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rs397515510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAC;AAC) 0 common in clinvar
Make rs397515510(-;-)
Make rs397515510(-;AAC)
ReferenceGRCh38 38.1/141
Chromosome19
Position18786628
GeneCOMP
is asnp
is mentioned by
dbSNPrs397515510
ebirs397515510
HLIrs397515510
Exacrs397515510
Varsomers397515510
Maprs397515510
PheGenIrs397515510
hapmaprs397515510
1000 genomesrs397515510
hgdprs397515510
ensemblrs397515510
gopubmedrs397515510
geneviewrs397515510
scholarrs397515510
googlers397515510
pharmgkbrs397515510
gwascentralrs397515510
openSNPrs397515510
23andMers397515510
23andMe allrs397515510
SNP Nexus

SNPshotrs397515510
SNPdbers397515510
MSV3drs397515510
GWAS Ctlgrs397515510
Max Magnitude0
ClinVar
Risk rs397515510(;)
Alt rs397515510(;)
Reference rs397515510(AAC;AAC)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 1
Variation info
Gene COMP
CLNDBN Multiple epiphyseal dysplasia 1
Reversed 1
HGVS NC_000019.9:g.18897438_18897440delGTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055748.1,