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rs397515512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515512(A;A)
Make rs397515512(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18784997
GeneCOMP
is asnp
is mentioned by
dbSNPrs397515512
ebirs397515512
HLIrs397515512
Exacrs397515512
Varsomers397515512
Maprs397515512
PheGenIrs397515512
hapmaprs397515512
1000 genomesrs397515512
hgdprs397515512
ensemblrs397515512
gopubmedrs397515512
geneviewrs397515512
scholarrs397515512
googlers397515512
pharmgkbrs397515512
gwascentralrs397515512
openSNPrs397515512
23andMers397515512
23andMe allrs397515512
SNP Nexus

SNPshotrs397515512
SNPdbers397515512
MSV3drs397515512
GWAS Ctlgrs397515512
Max Magnitude0
ClinVar
Risk rs397515512(A;A)
Alt rs397515512(A;A)
Reference rs397515512(G;G)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 1
Variation info
Gene COMP
CLNDBN Multiple epiphyseal dysplasia 1
Reversed 1
HGVS NC_000019.9:g.18895807C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055753.1,