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rs137852653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852653(C;C)
Make rs137852653(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18787644
GeneCOMP
is asnp
is mentioned by
dbSNPrs137852653
ebirs137852653
HLIrs137852653
Exacrs137852653
Varsomers137852653
Maprs137852653
PheGenIrs137852653
hapmaprs137852653
1000 genomesrs137852653
hgdprs137852653
ensemblrs137852653
gopubmedrs137852653
geneviewrs137852653
scholarrs137852653
googlers137852653
pharmgkbrs137852653
gwascentralrs137852653
openSNPrs137852653
23andMers137852653
23andMe allrs137852653
SNP Nexus

SNPshotrs137852653
SNPdbers137852653
MSV3drs137852653
GWAS Ctlgrs137852653
Max Magnitude0
OMIM600310
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852653(C;C)
Alt rs137852653(C;C)
Reference rs137852653(T;T)
Significance Pathogenic
Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18898453A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009766.2,