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rs1057518911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518911(C;C)
Make rs1057518911(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position47976531
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs1057518911
dbSNP (old)rs1057518911
ClinGenrs1057518911
ebirs1057518911
HLIrs1057518911
Exacrs1057518911
Gnomadrs1057518911
Varsomers1057518911
LitVarrs1057518911
Maprs1057518911
PheGenIrs1057518911
Biobankrs1057518911
1000 genomesrs1057518911
hgdprs1057518911
ensemblrs1057518911
gopubmedrs1057518911
geneviewrs1057518911
scholarrs1057518911
googlers1057518911
pharmgkbrs1057518911
gwascentralrs1057518911
openSNPrs1057518911
23andMers1057518911
23andMe allrs1057518911
SNPshotrs1057518911
SNPdbers1057518911
MSV3drs1057518911
GWAS Ctlgrs1057518911
Max Magnitude0
ClinVar
Risk rs1057518911(C;C)
Alt rs1057518911(C;C)
Reference Rs1057518911(G;G)
Significance Probable-Pathogenic
Disease Disproportionate short-limb short stature Narrow chest
Variation info
Gene COL2A1
CLNDBN Disproportionate short-limb short stature Narrow chest
Reversed 1
HGVS NC_000012.11:g.48370314C>G
CLNSRC
CLNACC RCV000415337.1,