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rs606231367

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231367(A;A)
Make rs606231367(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position62818517
GeneCOL9A3
is asnp
is mentioned by
dbSNPrs606231367
ebirs606231367
HLIrs606231367
Exacrs606231367
Varsomers606231367
Maprs606231367
PheGenIrs606231367
hapmaprs606231367
1000 genomesrs606231367
hgdprs606231367
ensemblrs606231367
gopubmedrs606231367
geneviewrs606231367
scholarrs606231367
googlers606231367
pharmgkbrs606231367
gwascentralrs606231367
openSNPrs606231367
23andMers606231367
23andMe allrs606231367
SNP Nexus

SNPshotrs606231367
SNPdbers606231367
MSV3drs606231367
GWAS Ctlgrs606231367
Max Magnitude0
ClinVar
Risk rs606231367(A;A)
Alt rs606231367(A;A)
Reference rs606231367(G;G)
Significance Pathogenic
Disease Epiphyseal dysplasia
Variation info
Gene COL9A3
CLNDBN Epiphyseal dysplasia, multiple, 3, with myopathy
Reversed 0
HGVS NC_000020.10:g.61449869G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018679.28,