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rs312262897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAC;GAC) 0 common in clinvar
Make rs312262897(-;-)
Make rs312262897(-;GAC)
ReferenceGRCh38 38.1/141
Chromosome19
Position18786035
GeneCOMP
is asnp
is mentioned by
dbSNPrs312262897
ebirs312262897
HLIrs312262897
Exacrs312262897
Varsomers312262897
Maprs312262897
PheGenIrs312262897
hapmaprs312262897
1000 genomesrs312262897
hgdprs312262897
ensemblrs312262897
gopubmedrs312262897
geneviewrs312262897
scholarrs312262897
googlers312262897
pharmgkbrs312262897
gwascentralrs312262897
openSNPrs312262897
23andMers312262897
23andMe allrs312262897
SNP Nexus

SNPshotrs312262897
SNPdbers312262897
MSV3drs312262897
GWAS Ctlgrs312262897
Max Magnitude0
ClinVar
Risk rs312262897(;)
Alt rs312262897(;)
Reference rs312262897(GAC;GAC)
Significance Pathogenic
Disease Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18896845_18896847delGTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000033880.1,