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rs312262899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262899(A;A)
Make rs312262899(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position18785063
GeneCOMP
is asnp
is mentioned by
dbSNPrs312262899
ebirs312262899
HLIrs312262899
Exacrs312262899
Varsomers312262899
Maprs312262899
PheGenIrs312262899
hapmaprs312262899
1000 genomesrs312262899
hgdprs312262899
ensemblrs312262899
gopubmedrs312262899
geneviewrs312262899
scholarrs312262899
googlers312262899
pharmgkbrs312262899
gwascentralrs312262899
openSNPrs312262899
23andMers312262899
23andMe allrs312262899
SNP Nexus

SNPshotrs312262899
SNPdbers312262899
MSV3drs312262899
GWAS Ctlgrs312262899
Max Magnitude0
ClinVar
Risk rs312262899(A;A)
Alt rs312262899(A;A)
Reference rs312262899(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.18895873C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000033884.2,