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rs121908255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908255(C;T)
Make rs121908255(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position79783736
GeneCBX2
is asnp
is mentioned by
dbSNPrs121908255
ebirs121908255
HLIrs121908255
Exacrs121908255
Varsomers121908255
Maprs121908255
PheGenIrs121908255
hapmaprs121908255
1000 genomesrs121908255
hgdprs121908255
ensemblrs121908255
gopubmedrs121908255
geneviewrs121908255
scholarrs121908255
googlers121908255
pharmgkbrs121908255
gwascentralrs121908255
openSNPrs121908255
23andMers121908255
23andMe allrs121908255
SNP Nexus

SNPshotrs121908255
SNPdbers121908255
MSV3drs121908255
GWAS Ctlgrs121908255
Max Magnitude0
OMIM602770
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908255(T;T)
Alt rs121908255(T;T)
Reference rs121908255(C;C)
Significance Pathogenic
Disease 46
Variation info
Gene CBX2
CLNDBN 46,XY sex reversal, type 5
Reversed 0
HGVS NC_000017.10:g.77757535C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007228.3,


[PMID 19361780OA-icon.png] Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.