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rs137852652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852652(G;T)
Make rs137852652(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18787602
GeneCOMP
is asnp
is mentioned by
dbSNPrs137852652
ebirs137852652
HLIrs137852652
Exacrs137852652
Varsomers137852652
Maprs137852652
PheGenIrs137852652
hapmaprs137852652
1000 genomesrs137852652
hgdprs137852652
ensemblrs137852652
gopubmedrs137852652
geneviewrs137852652
scholarrs137852652
googlers137852652
pharmgkbrs137852652
gwascentralrs137852652
openSNPrs137852652
23andMers137852652
23andMe allrs137852652
SNP Nexus

SNPshotrs137852652
SNPdbers137852652
MSV3drs137852652
GWAS Ctlgrs137852652
Max Magnitude0
OMIM600310
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852652(T;T)
Alt rs137852652(T;T)
Reference rs137852652(G;G)
Significance Pathogenic
Disease Epiphyseal dysplasia
Variation info
Gene COMP
CLNDBN Epiphyseal dysplasia, multiple, 1, severe
Reversed 1
HGVS NC_000019.9:g.18898411C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009765.2,