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rs387906611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906611(C;C)
Make rs387906611(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position102989562
GeneCOL11A1
is asnp
is mentioned by
dbSNPrs387906611
ebirs387906611
HLIrs387906611
Exacrs387906611
Varsomers387906611
Maprs387906611
PheGenIrs387906611
hapmaprs387906611
1000 genomesrs387906611
hgdprs387906611
ensemblrs387906611
gopubmedrs387906611
geneviewrs387906611
scholarrs387906611
googlers387906611
pharmgkbrs387906611
gwascentralrs387906611
openSNPrs387906611
23andMers387906611
23andMe allrs387906611
SNP Nexus

SNPshotrs387906611
SNPdbers387906611
MSV3drs387906611
GWAS Ctlgrs387906611
Max Magnitude0
ClinVar
Risk rs387906611(C;C)
Alt rs387906611(C;C)
Reference rs387906611(G;G)
Significance Pathogenic
Disease Fibrochondrogenesis
Variation info
Gene COL11A1
CLNDBN Fibrochondrogenesis
Reversed 1
HGVS NC_000001.10:g.103455118C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022496.31,