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rs869320730

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869320730(-;-)
Make rs869320730(-;C)
Make rs869320730(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position18783057
GeneCOMP
is asnp
is mentioned by
dbSNPrs869320730
ebirs869320730
HLIrs869320730
Exacrs869320730
Varsomers869320730
Maprs869320730
PheGenIrs869320730
hapmaprs869320730
1000 genomesrs869320730
hgdprs869320730
ensemblrs869320730
gopubmedrs869320730
geneviewrs869320730
scholarrs869320730
googlers869320730
pharmgkbrs869320730
gwascentralrs869320730
openSNPrs869320730
23andMers869320730
23andMe allrs869320730
SNP Nexus

SNPshotrs869320730
SNPdbers869320730
MSV3drs869320730
GWAS Ctlgrs869320730
Max Magnitude0
ClinVar
Risk rs869320730(C;C)
Alt rs869320730(C;C)
Reference rs869320730(;)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 1
Variation info
Gene COMP
CLNDBN Multiple epiphyseal dysplasia 1
Reversed 1
HGVS NC_000019.9:g.18893868dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000009775.4,