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rs121908836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908836(A;A)
Make rs121908836(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position189864380
GeneTP63
is asnp
is mentioned by
dbSNPrs121908836
dbSNP (classic)rs121908836
ClinGenrs121908836
ebirs121908836
HLIrs121908836
Exacrs121908836
Gnomadrs121908836
Varsomers121908836
LitVarrs121908836
Maprs121908836
PheGenIrs121908836
Biobankrs121908836
1000 genomesrs121908836
hgdprs121908836
ensemblrs121908836
geneviewrs121908836
scholarrs121908836
googlers121908836
pharmgkbrs121908836
gwascentralrs121908836
openSNPrs121908836
23andMers121908836
SNPshotrs121908836
SNPdbers121908836
MSV3drs121908836
GWAS Ctlgrs121908836
Max Magnitude0
OMIM603273
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908836(A;A)
Alt rs121908836(A;A)
Reference Rs121908836(G;G)
Significance Pathogenic
Disease Ectrodactyly
Variation info
Gene TP63
CLNDBN Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
Reversed 0
HGVS NC_000003.11:g.189582169G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006901.2,