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rs121908842

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908842(A;T)
Make rs121908842(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position189890795
GeneTP63
is asnp
is mentioned by
dbSNPrs121908842
dbSNP (classic)rs121908842
ClinGenrs121908842
ebirs121908842
HLIrs121908842
Exacrs121908842
Gnomadrs121908842
Varsomers121908842
LitVarrs121908842
Maprs121908842
PheGenIrs121908842
Biobankrs121908842
1000 genomesrs121908842
hgdprs121908842
ensemblrs121908842
geneviewrs121908842
scholarrs121908842
googlers121908842
pharmgkbrs121908842
gwascentralrs121908842
openSNPrs121908842
23andMers121908842
SNPshotrs121908842
SNPdbers121908842
MSV3drs121908842
GWAS Ctlgrs121908842
Max Magnitude0
OMIM603273
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908842(T;T)
Alt rs121908842(T;T)
Reference Rs121908842(A;A)
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.189608584A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006909.2,