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rs121908845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908845(C;C)
Make rs121908845(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position189889478
GeneTP63
is asnp
is mentioned by
dbSNPrs121908845
dbSNP (classic)rs121908845
ClinGenrs121908845
ebirs121908845
HLIrs121908845
Exacrs121908845
Gnomadrs121908845
Varsomers121908845
LitVarrs121908845
Maprs121908845
PheGenIrs121908845
Biobankrs121908845
1000 genomesrs121908845
hgdprs121908845
ensemblrs121908845
geneviewrs121908845
scholarrs121908845
googlers121908845
pharmgkbrs121908845
gwascentralrs121908845
openSNPrs121908845
23andMers121908845
SNPshotrs121908845
SNPdbers121908845
MSV3drs121908845
GWAS Ctlgrs121908845
Max Magnitude0
OMIM603273
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908845(C;C)
Alt rs121908845(C;C)
Reference Rs121908845(T;T)
Significance Pathogenic
Disease Hay-Wells syndrome of ectodermal dysplasia Rapp-Hodgkin ectodermal dysplasia syndrome
Variation info
Gene TP63
CLNDBN Hay-Wells syndrome of ectodermal dysplasia Rapp-Hodgkin ectodermal dysplasia syndrome
Reversed 0
HGVS NC_000003.11:g.189607267T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006918.2, RCV000006919.2,