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rs121908431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908431(C;T)
Make rs121908431(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position115604099
GeneTRPS1
is asnp
is mentioned by
dbSNPrs121908431
ebirs121908431
HLIrs121908431
Exacrs121908431
Varsomers121908431
Maprs121908431
PheGenIrs121908431
hapmaprs121908431
1000 genomesrs121908431
hgdprs121908431
ensemblrs121908431
gopubmedrs121908431
geneviewrs121908431
scholarrs121908431
googlers121908431
pharmgkbrs121908431
gwascentralrs121908431
openSNPrs121908431
23andMers121908431
23andMe allrs121908431
SNP Nexus

SNPshotrs121908431
SNPdbers121908431
MSV3drs121908431
GWAS Ctlgrs121908431
Max Magnitude0
OMIM604386
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908431(G,T;G,T)
Alt rs121908431(G,T;G,T)
Reference rs121908431(C;C)
Significance Pathogenic
Disease Trichorhinophalangeal dysplasia type I
Variation info
Gene TRPS1
CLNDBN Trichorhinophalangeal dysplasia type I
Reversed 1
HGVS NC_000008.10:g.116616326G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005912.2,