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rs137853129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853129(C;G)
Make rs137853129(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position72122749
GeneSOX9
is asnp
is mentioned by
dbSNPrs137853129
ebirs137853129
HLIrs137853129
Exacrs137853129
Varsomers137853129
Maprs137853129
PheGenIrs137853129
hapmaprs137853129
1000 genomesrs137853129
hgdprs137853129
ensemblrs137853129
gopubmedrs137853129
geneviewrs137853129
scholarrs137853129
googlers137853129
pharmgkbrs137853129
gwascentralrs137853129
openSNPrs137853129
23andMers137853129
23andMe allrs137853129
SNP Nexus

SNPshotrs137853129
SNPdbers137853129
MSV3drs137853129
GWAS Ctlgrs137853129
Max Magnitude0
OMIM608160
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137853129(G;G)
Alt rs137853129(G;G)
Reference rs137853129(C;C)
Significance Pathogenic
Disease Camptomelic dysplasia
Variation info
Gene SOX9 SOX9-AS1 FLJ37644
CLNDBN Camptomelic dysplasia
Reversed 0
HGVS NC_000017.10:g.70118890C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002623.2,