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rs28940282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940282(C;T)
Make rs28940282(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position72122780
GeneSOX9, SOX9-AS1
is asnp
is mentioned by
dbSNPrs28940282
ebirs28940282
HLIrs28940282
Exacrs28940282
Varsomers28940282
Maprs28940282
PheGenIrs28940282
hapmaprs28940282
1000 genomesrs28940282
hgdprs28940282
ensemblrs28940282
gopubmedrs28940282
geneviewrs28940282
scholarrs28940282
googlers28940282
pharmgkbrs28940282
gwascentralrs28940282
openSNPrs28940282
23andMers28940282
23andMe allrs28940282
SNP Nexus

SNPshotrs28940282
SNPdbers28940282
MSV3drs28940282
GWAS Ctlgrs28940282
Max Magnitude0
OMIM608160
DescACAMPOMELIC CAMPOMELIC DYSPLASIA
Variant0008
Relatedalso


ClinVar
Risk rs28940282(T;T)
Alt rs28940282(T;T)
Reference rs28940282(C;C)
Significance Pathogenic
Disease Acampomelic campomelic dysplasia
Variation info
Gene SOX9 SOX9-AS1 FLJ37644
CLNDBN Acampomelic campomelic dysplasia
Reversed 0
HGVS NC_000017.10:g.70118921C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002620.3,