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rs1057518669

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518669(C;C)
Make rs1057518669(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position72124284
GeneSOX9
is asnp
is mentioned by
dbSNPrs1057518669
dbSNP (old)rs1057518669
ClinGenrs1057518669
ebirs1057518669
HLIrs1057518669
Exacrs1057518669
Gnomadrs1057518669
Varsomers1057518669
LitVarrs1057518669
Maprs1057518669
PheGenIrs1057518669
Biobankrs1057518669
1000 genomesrs1057518669
hgdprs1057518669
ensemblrs1057518669
gopubmedrs1057518669
geneviewrs1057518669
scholarrs1057518669
googlers1057518669
pharmgkbrs1057518669
gwascentralrs1057518669
openSNPrs1057518669
23andMers1057518669
23andMe allrs1057518669
SNPshotrs1057518669
SNPdbers1057518669
MSV3drs1057518669
GWAS Ctlgrs1057518669
Max Magnitude0
ClinVar
Risk rs1057518669(C;C)
Alt rs1057518669(C;C)
Reference Rs1057518669(T;T)
Significance Probable-Pathogenic
Disease Camptomelic dysplasia
Variation info
Gene SOX9
CLNDBN Camptomelic dysplasia
Reversed 0
HGVS NC_000017.10:g.70120425T>C
CLNSRC
CLNACC RCV000415154.1,