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rs121908433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908433(A;C)
Make rs121908433(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position115418413
GeneTRPS1
is asnp
is mentioned by
dbSNPrs121908433
dbSNP (classic)rs121908433
ClinGenrs121908433
ebirs121908433
HLIrs121908433
Exacrs121908433
Gnomadrs121908433
Varsomers121908433
LitVarrs121908433
Maprs121908433
PheGenIrs121908433
Biobankrs121908433
1000 genomesrs121908433
hgdprs121908433
ensemblrs121908433
geneviewrs121908433
scholarrs121908433
googlers121908433
pharmgkbrs121908433
gwascentralrs121908433
openSNPrs121908433
23andMers121908433
SNPshotrs121908433
SNPdbers121908433
MSV3drs121908433
GWAS Ctlgrs121908433
Max Magnitude0
OMIM604386
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908433(C;C)
Alt rs121908433(C;C)
Reference Rs121908433(A;A)
Significance Pathogenic
Disease Trichorhinophalangeal syndrome type 3
Variation info
Gene TRPS1
CLNDBN Trichorhinophalangeal syndrome type 3
Reversed 1
HGVS NC_000008.10:g.116430641T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005917.2,