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rs312262903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262903(C;T)
Make rs312262903(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position18785755
GeneCOMP
is asnp
is mentioned by
dbSNPrs312262903
ebirs312262903
HLIrs312262903
Exacrs312262903
Varsomers312262903
Maprs312262903
PheGenIrs312262903
hapmaprs312262903
1000 genomesrs312262903
hgdprs312262903
ensemblrs312262903
gopubmedrs312262903
geneviewrs312262903
scholarrs312262903
googlers312262903
pharmgkbrs312262903
gwascentralrs312262903
openSNPrs312262903
23andMers312262903
23andMe allrs312262903
SNP Nexus

SNPshotrs312262903
SNPdbers312262903
MSV3drs312262903
GWAS Ctlgrs312262903
Max Magnitude0
ClinVar
Risk rs312262903(T;T)
Alt rs312262903(T;T)
Reference rs312262903(C;C)
Significance Pathogenic
Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18896565G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033882.2,