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rs137852654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852654(C;G)
Make rs137852654(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18785772
GeneCOMP
is asnp
is mentioned by
dbSNPrs137852654
ebirs137852654
HLIrs137852654
Exacrs137852654
Varsomers137852654
Maprs137852654
PheGenIrs137852654
hapmaprs137852654
1000 genomesrs137852654
hgdprs137852654
ensemblrs137852654
gopubmedrs137852654
geneviewrs137852654
scholarrs137852654
googlers137852654
pharmgkbrs137852654
gwascentralrs137852654
openSNPrs137852654
23andMers137852654
23andMe allrs137852654
SNP Nexus

SNPshotrs137852654
SNPdbers137852654
MSV3drs137852654
GWAS Ctlgrs137852654
Max Magnitude0
OMIM600310
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852654(G;G)
Alt rs137852654(G;G)
Reference rs137852654(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.18896582G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009767.4,