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rs137852650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852650(G;T)
Make rs137852650(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18786040
GeneCOMP
is asnp
is mentioned by
dbSNPrs137852650
ebirs137852650
HLIrs137852650
Exacrs137852650
Varsomers137852650
Maprs137852650
PheGenIrs137852650
hapmaprs137852650
1000 genomesrs137852650
hgdprs137852650
ensemblrs137852650
gopubmedrs137852650
geneviewrs137852650
scholarrs137852650
googlers137852650
pharmgkbrs137852650
gwascentralrs137852650
openSNPrs137852650
23andMers137852650
23andMe allrs137852650
SNP Nexus

SNPshotrs137852650
SNPdbers137852650
MSV3drs137852650
GWAS Ctlgrs137852650
Max Magnitude0
OMIM600310
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852650(T;T)
Alt rs137852650(T;T)
Reference rs137852650(G;G)
Significance Pathogenic
Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18896850C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009761.4,