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rs137852655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852655(A;A)
Make rs137852655(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18783125
GeneCOMP
is asnp
is mentioned by
dbSNPrs137852655
ebirs137852655
HLIrs137852655
Exacrs137852655
Varsomers137852655
Maprs137852655
PheGenIrs137852655
hapmaprs137852655
1000 genomesrs137852655
hgdprs137852655
ensemblrs137852655
gopubmedrs137852655
geneviewrs137852655
scholarrs137852655
googlers137852655
pharmgkbrs137852655
gwascentralrs137852655
openSNPrs137852655
23andMers137852655
23andMe allrs137852655
SNP Nexus

SNPshotrs137852655
SNPdbers137852655
MSV3drs137852655
GWAS Ctlgrs137852655
Max Magnitude0
OMIM600310
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852655(A;A)
Alt rs137852655(A;A)
Reference rs137852655(G;G)
Significance Pathogenic
Disease Pseudoachondroplasia Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Pseudoachondroplasia, severe Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18893935C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009772.2, RCV000033890.2,