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rs121908838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908838(A;G)
Make rs121908838(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position189864349
GeneTP63
is asnp
is mentioned by
dbSNPrs121908838
dbSNP (classic)rs121908838
ClinGenrs121908838
ebirs121908838
HLIrs121908838
Exacrs121908838
Gnomadrs121908838
Varsomers121908838
LitVarrs121908838
Maprs121908838
PheGenIrs121908838
Biobankrs121908838
1000 genomesrs121908838
hgdprs121908838
ensemblrs121908838
geneviewrs121908838
scholarrs121908838
googlers121908838
pharmgkbrs121908838
gwascentralrs121908838
openSNPrs121908838
23andMers121908838
SNPshotrs121908838
SNPdbers121908838
MSV3drs121908838
GWAS Ctlgrs121908838
Max Magnitude0
OMIM603273
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908838(G;G)
Alt rs121908838(G;G)
Reference Rs121908838(A;A)
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.189582138A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006904.2,