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rs2229989

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2229989(C;T)
Make rs2229989(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position72122794
GeneSOX9
is asnp
is mentioned by
dbSNPrs2229989
ebirs2229989
HLIrs2229989
Exacrs2229989
Varsomers2229989
Maprs2229989
PheGenIrs2229989
hapmaprs2229989
1000 genomesrs2229989
hgdprs2229989
ensemblrs2229989
gopubmedrs2229989
geneviewrs2229989
scholarrs2229989
googlers2229989
pharmgkbrs2229989
gwascentralrs2229989
openSNPrs2229989
23andMers2229989
23andMe allrs2229989
SNP Nexus

SNPshotrs2229989
SNPdbers2229989
MSV3drs2229989
GWAS Ctlgrs2229989
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs2229989(T;T)
Alt rs2229989(T;T)
Reference rs2229989(C;C)
Significance Pathogenic
Disease Camptomelic dysplasia
Variation info
Gene SOX9 FLJ37644
CLNDBN Camptomelic dysplasia
Reversed 0
HGVS NC_000017.10:g.70118935C>G; NC_000017.10:g.70118935C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000224991.2, RCV000020284.1,