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rs121908843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908843(G;G)
Make rs121908843(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position189890817
GeneTP63
is asnp
is mentioned by
dbSNPrs121908843
dbSNP (classic)rs121908843
ClinGenrs121908843
ebirs121908843
HLIrs121908843
Exacrs121908843
Gnomadrs121908843
Varsomers121908843
LitVarrs121908843
Maprs121908843
PheGenIrs121908843
Biobankrs121908843
1000 genomesrs121908843
hgdprs121908843
ensemblrs121908843
geneviewrs121908843
scholarrs121908843
googlers121908843
pharmgkbrs121908843
gwascentralrs121908843
openSNPrs121908843
23andMers121908843
SNPshotrs121908843
SNPdbers121908843
MSV3drs121908843
GWAS Ctlgrs121908843
Max Magnitude0
OMIM603273
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908843(G;G)
Alt rs121908843(G;G)
Reference Rs121908843(T;T)
Significance Pathogenic
Disease Hay-Wells syndrome of ectodermal dysplasia
Variation info
Gene TP63
CLNDBN Hay-Wells syndrome of ectodermal dysplasia
Reversed 0
HGVS NC_000003.11:g.189608606T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006910.2,