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rs137853130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853130(A;A)
Make rs137853130(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position72122759
GeneSOX9
is asnp
is mentioned by
dbSNPrs137853130
ebirs137853130
HLIrs137853130
Exacrs137853130
Varsomers137853130
Maprs137853130
PheGenIrs137853130
hapmaprs137853130
1000 genomesrs137853130
hgdprs137853130
ensemblrs137853130
gopubmedrs137853130
geneviewrs137853130
scholarrs137853130
googlers137853130
pharmgkbrs137853130
gwascentralrs137853130
openSNPrs137853130
23andMers137853130
23andMe allrs137853130
SNP Nexus

SNPshotrs137853130
SNPdbers137853130
MSV3drs137853130
GWAS Ctlgrs137853130
Max Magnitude0
OMIM608160
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137853130(A;A)
Alt rs137853130(A;A)
Reference rs137853130(G;G)
Significance Pathogenic
Disease Campomelic dysplasia with autosomal sex reversal
Variation info
Gene SOX9 SOX9-AS1 FLJ37644
CLNDBN Campomelic dysplasia with autosomal sex reversal
Reversed 0
HGVS NC_000017.10:g.70118900G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002624.3,