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rs121908436

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908436(C;T)
Make rs121908436(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position115418358
GeneTRPS1
is asnp
is mentioned by
dbSNPrs121908436
dbSNP (classic)rs121908436
ClinGenrs121908436
ebirs121908436
HLIrs121908436
Exacrs121908436
Gnomadrs121908436
Varsomers121908436
LitVarrs121908436
Maprs121908436
PheGenIrs121908436
Biobankrs121908436
1000 genomesrs121908436
hgdprs121908436
ensemblrs121908436
geneviewrs121908436
scholarrs121908436
googlers121908436
pharmgkbrs121908436
gwascentralrs121908436
openSNPrs121908436
23andMers121908436
SNPshotrs121908436
SNPdbers121908436
MSV3drs121908436
GWAS Ctlgrs121908436
Max Magnitude0
OMIM604386
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908436(T;T)
Alt rs121908436(T;T)
Reference Rs121908436(C;C)
Significance Pathogenic
Disease Trichorhinophalangeal syndrome type 3
Variation info
Gene TRPS1
CLNDBN Trichorhinophalangeal syndrome type 3
Reversed 1
HGVS NC_000008.10:g.116430586G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005920.2,