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rs137852651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852651(A;A)
Make rs137852651(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18786051
GeneCOMP
is asnp
is mentioned by
dbSNPrs137852651
ebirs137852651
HLIrs137852651
Exacrs137852651
Varsomers137852651
Maprs137852651
PheGenIrs137852651
hapmaprs137852651
1000 genomesrs137852651
hgdprs137852651
ensemblrs137852651
gopubmedrs137852651
geneviewrs137852651
scholarrs137852651
googlers137852651
pharmgkbrs137852651
gwascentralrs137852651
openSNPrs137852651
23andMers137852651
23andMe allrs137852651
SNP Nexus

SNPshotrs137852651
SNPdbers137852651
MSV3drs137852651
GWAS Ctlgrs137852651
Max Magnitude0
OMIM600310
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852651(A;A)
Alt rs137852651(A;A)
Reference rs137852651(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.18896861C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009762.2,