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rs587776847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(GT;GT) 0 common in clinvar
Make rs587776847(-;-)
Make rs587776847(-;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position47987268
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs587776847
ebirs587776847
HLIrs587776847
Exacrs587776847
Varsomers587776847
Maprs587776847
PheGenIrs587776847
hapmaprs587776847
1000 genomesrs587776847
hgdprs587776847
ensemblrs587776847
gopubmedrs587776847
geneviewrs587776847
scholarrs587776847
googlers587776847
pharmgkbrs587776847
gwascentralrs587776847
openSNPrs587776847
23andMers587776847
23andMe allrs587776847
SNP Nexus

SNPshotrs587776847
SNPdbers587776847
MSV3drs587776847
GWAS Ctlgrs587776847
Max Magnitude0
ClinVar
Risk rs587776847(CT,T;CT,T)
Alt rs587776847(CT,T;CT,T)
Reference rs587776847(GT;GT)
Significance Pathogenic
Disease Kniest dysplasia
Variation info
Gene COL2A1
CLNDBN Kniest dysplasia
Reversed 1
HGVS NC_000012.11:g.48381051delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018918.28,