Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908847(A;G)
Make rs121908847(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position189868641
GeneTP63
is asnp
is mentioned by
dbSNPrs121908847
dbSNP (classic)rs121908847
ClinGenrs121908847
ebirs121908847
HLIrs121908847
Exacrs121908847
Gnomadrs121908847
Varsomers121908847
LitVarrs121908847
Maprs121908847
PheGenIrs121908847
Biobankrs121908847
1000 genomesrs121908847
hgdprs121908847
ensemblrs121908847
geneviewrs121908847
scholarrs121908847
googlers121908847
pharmgkbrs121908847
gwascentralrs121908847
openSNPrs121908847
23andMers121908847
SNPshotrs121908847
SNPdbers121908847
MSV3drs121908847
GWAS Ctlgrs121908847
Max Magnitude0
OMIM603273
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121908847(G;G)
Alt rs121908847(G;G)
Reference Rs121908847(A;A)
Significance Pathogenic
Disease Orofacial cleft 8 ADULT syndrome
Variation info
Gene TP63
CLNDBN Orofacial cleft 8 ADULT syndrome
Reversed 0
HGVS NC_000003.11:g.189586430A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006922.2, RCV000194064.1,