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rs121908848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908848(C;T)
Make rs121908848(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position189738739
GeneTP63
is asnp
is mentioned by
dbSNPrs121908848
dbSNP (classic)rs121908848
ClinGenrs121908848
ebirs121908848
HLIrs121908848
Exacrs121908848
Gnomadrs121908848
Varsomers121908848
LitVarrs121908848
Maprs121908848
PheGenIrs121908848
Biobankrs121908848
1000 genomesrs121908848
hgdprs121908848
ensemblrs121908848
geneviewrs121908848
scholarrs121908848
googlers121908848
pharmgkbrs121908848
gwascentralrs121908848
openSNPrs121908848
23andMers121908848
SNPshotrs121908848
SNPdbers121908848
MSV3drs121908848
GWAS Ctlgrs121908848
Max Magnitude0
OMIM603273
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121908848(A;A) rs121908848(T;T)
Alt rs121908848(A;A) rs121908848(T;T)
Reference Rs121908848(C;C)
Significance Pathogenic
Disease Split-hand/foot malformation 4
Variation info
Gene TP63
CLNDBN Split-hand/foot malformation 4
Reversed 0
HGVS NC_000003.11:g.189456528C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006924.2,