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rs121908846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908846(C;C)
Make rs121908846(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position189890874
GeneTP63
is asnp
is mentioned by
dbSNPrs121908846
dbSNP (classic)rs121908846
ClinGenrs121908846
ebirs121908846
HLIrs121908846
Exacrs121908846
Gnomadrs121908846
Varsomers121908846
LitVarrs121908846
Maprs121908846
PheGenIrs121908846
Biobankrs121908846
1000 genomesrs121908846
hgdprs121908846
ensemblrs121908846
geneviewrs121908846
scholarrs121908846
googlers121908846
pharmgkbrs121908846
gwascentralrs121908846
openSNPrs121908846
23andMers121908846
SNPshotrs121908846
SNPdbers121908846
MSV3drs121908846
GWAS Ctlgrs121908846
Max Magnitude0
OMIM603273
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908846(C;C) rs121908846(G;G)
Alt rs121908846(C;C) rs121908846(G;G)
Reference Rs121908846(T;T)
Significance Pathogenic
Disease Rapp-Hodgkin ectodermal dysplasia syndrome
Variation info
Gene TP63
CLNDBN Rapp-Hodgkin ectodermal dysplasia syndrome
Reversed 0
HGVS NC_000003.11:g.189608663T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006920.2,