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rs730882190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730882190(-;G)
Make rs730882190(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position103006072
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs730882190
dbSNP (classic)rs730882190
ClinGenrs730882190
ebirs730882190
HLIrs730882190
Exacrs730882190
Gnomadrs730882190
Varsomers730882190
LitVarrs730882190
Maprs730882190
PheGenIrs730882190
Biobankrs730882190
1000 genomesrs730882190
hgdprs730882190
ensemblrs730882190
geneviewrs730882190
scholarrs730882190
googlers730882190
pharmgkbrs730882190
gwascentralrs730882190
openSNPrs730882190
23andMers730882190
SNPshotrs730882190
SNPdbers730882190
MSV3drs730882190
GWAS Ctlgrs730882190
Max Magnitude0
ClinVar
Risk rs730882190(G;G)
Alt rs730882190(G;G)
Reference Rs730882190(-;-)
Significance Pathogenic
Disease Fibrochondrogenesis
Variation info
Gene COL11A1
CLNDBN Fibrochondrogenesis
Reversed 1
HGVS NC_000001.10:g.103471629dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000022494.29,