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rs80338688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338688(A;A)
Make rs80338688(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position72124177
GeneSOX9
is asnp
is mentioned by
dbSNPrs80338688
ebirs80338688
HLIrs80338688
Exacrs80338688
Varsomers80338688
Maprs80338688
PheGenIrs80338688
hapmaprs80338688
1000 genomesrs80338688
hgdprs80338688
ensemblrs80338688
gopubmedrs80338688
geneviewrs80338688
scholarrs80338688
googlers80338688
pharmgkbrs80338688
gwascentralrs80338688
openSNPrs80338688
23andMers80338688
23andMe allrs80338688
SNP Nexus

SNPshotrs80338688
SNPdbers80338688
MSV3drs80338688
GWAS Ctlgrs80338688
GMAF0.0009183
Max Magnitude0
OMIM608160
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338688(A,G,T;A,G,T)
Alt rs80338688(A,G,T;A,G,T)
Reference rs80338688(C;C)
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.70120318C>A; NC_000017.10:g.70120318C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020282.1, RCV000002617.3, RCV000020283.1,


[PMID 15806394] A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.