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rs121908256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908256(C;C)
Make rs121908256(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position79784771
GeneCBX2
is asnp
is mentioned by
dbSNPrs121908256
ebirs121908256
HLIrs121908256
Exacrs121908256
Varsomers121908256
Maprs121908256
PheGenIrs121908256
hapmaprs121908256
1000 genomesrs121908256
hgdprs121908256
ensemblrs121908256
gopubmedrs121908256
geneviewrs121908256
scholarrs121908256
googlers121908256
pharmgkbrs121908256
gwascentralrs121908256
openSNPrs121908256
23andMers121908256
23andMe allrs121908256
SNP Nexus

SNPshotrs121908256
SNPdbers121908256
MSV3drs121908256
GWAS Ctlgrs121908256
Max Magnitude0
OMIM602770
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908256(A,C;A,C)
Alt rs121908256(A,C;A,C)
Reference rs121908256(G;G)
Significance Pathogenic
Disease 46
Variation info
Gene CBX2
CLNDBN 46,XY sex reversal, type 5
Reversed 0
HGVS NC_000017.10:g.77758570G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007229.3,


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