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rs121908840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908840(A;A)
Make rs121908840(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position189867903
GeneTP63
is asnp
is mentioned by
dbSNPrs121908840
dbSNP (classic)rs121908840
ClinGenrs121908840
ebirs121908840
HLIrs121908840
Exacrs121908840
Gnomadrs121908840
Varsomers121908840
LitVarrs121908840
Maprs121908840
PheGenIrs121908840
Biobankrs121908840
1000 genomesrs121908840
hgdprs121908840
ensemblrs121908840
geneviewrs121908840
scholarrs121908840
googlers121908840
pharmgkbrs121908840
gwascentralrs121908840
openSNPrs121908840
23andMers121908840
SNPshotrs121908840
SNPdbers121908840
MSV3drs121908840
GWAS Ctlgrs121908840
Max Magnitude0
OMIM603273
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908840(A;A)
Alt rs121908840(A;A)
Reference Rs121908840(G;G)
Significance Pathogenic
Disease Ectrodactyly Rapp-Hodgkin ectodermal dysplasia syndrome not provided
Variation info
Gene TP63
CLNDBN Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Rapp-Hodgkin ectodermal dysplasia syndrome not provided
Reversed 0
HGVS NC_000003.11:g.189585692G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006906.2, RCV000006907.2, RCV000478736.1,