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rs312262898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262898(-;-)
Make rs312262898(-;GAC)
Make rs312262898(GAC;GAC)
ReferenceGRCh38 38.1/141
Chromosome19
Position18786034
GeneCOMP
is asnp
is mentioned by
dbSNPrs312262898
ebirs312262898
HLIrs312262898
Exacrs312262898
Varsomers312262898
Maprs312262898
PheGenIrs312262898
hapmaprs312262898
1000 genomesrs312262898
hgdprs312262898
ensemblrs312262898
gopubmedrs312262898
geneviewrs312262898
scholarrs312262898
googlers312262898
pharmgkbrs312262898
gwascentralrs312262898
openSNPrs312262898
23andMers312262898
23andMe allrs312262898
SNP Nexus

SNPshotrs312262898
SNPdbers312262898
MSV3drs312262898
GWAS Ctlgrs312262898
Max Magnitude0
ClinVar
Risk rs312262898(GAC;GAC)
Alt rs312262898(GAC;GAC)
Reference rs312262898(;)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 1 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation info
Gene COMP
CLNDBN Multiple epiphyseal dysplasia 1 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed 1
HGVS NC_000019.9:g.18896845_18896847dupGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009771.2, RCV000033881.1,