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rs121908837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908837(C;C)
Make rs121908837(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position189868620
GeneTP63
is asnp
is mentioned by
dbSNPrs121908837
dbSNP (classic)rs121908837
ClinGenrs121908837
ebirs121908837
HLIrs121908837
Exacrs121908837
Gnomadrs121908837
Varsomers121908837
LitVarrs121908837
Maprs121908837
PheGenIrs121908837
Biobankrs121908837
1000 genomesrs121908837
hgdprs121908837
ensemblrs121908837
geneviewrs121908837
scholarrs121908837
googlers121908837
pharmgkbrs121908837
gwascentralrs121908837
openSNPrs121908837
23andMers121908837
SNPshotrs121908837
SNPdbers121908837
MSV3drs121908837
GWAS Ctlgrs121908837
Max Magnitude0
OMIM603273
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908837(C;C)
Alt rs121908837(C;C)
Reference Rs121908837(T;T)
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.189586409T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006902.2,