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rs587776541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776541(-;-)
Make rs587776541(-;C)
Make rs587776541(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position72123593
GeneSOX9
is asnp
is mentioned by
dbSNPrs587776541
ebirs587776541
HLIrs587776541
Exacrs587776541
Varsomers587776541
Maprs587776541
PheGenIrs587776541
hapmaprs587776541
1000 genomesrs587776541
hgdprs587776541
ensemblrs587776541
gopubmedrs587776541
geneviewrs587776541
scholarrs587776541
googlers587776541
pharmgkbrs587776541
gwascentralrs587776541
openSNPrs587776541
23andMers587776541
23andMe allrs587776541
SNP Nexus

SNPshotrs587776541
SNPdbers587776541
MSV3drs587776541
GWAS Ctlgrs587776541
Max Magnitude0
ClinVar
Risk rs587776541(C;C)
Alt rs587776541(C;C)
Reference rs587776541(;)
Significance Pathogenic
Disease Camptomelic dysplasia Campomelic dysplasia with autosomal sex reversal
Variation info
Gene SOX9 FLJ37644
CLNDBN Camptomelic dysplasia Campomelic dysplasia with autosomal sex reversal
Reversed 0
HGVS NC_000017.10:g.70119734dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002615.2, RCV000002616.2,