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rs28939069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939069(C;T)
Make rs28939069(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position115415015
GeneTRPS1
is asnp
is mentioned by
dbSNPrs28939069
ebirs28939069
HLIrs28939069
Exacrs28939069
Varsomers28939069
Maprs28939069
PheGenIrs28939069
hapmaprs28939069
1000 genomesrs28939069
hgdprs28939069
ensemblrs28939069
gopubmedrs28939069
geneviewrs28939069
scholarrs28939069
googlers28939069
pharmgkbrs28939069
gwascentralrs28939069
openSNPrs28939069
23andMers28939069
23andMe allrs28939069
SNP Nexus

SNPshotrs28939069
SNPdbers28939069
MSV3drs28939069
GWAS Ctlgrs28939069
Max Magnitude0
OMIM604386
DescTRICHORHINOPHALANGEAL SYNDROME, TYPE I
Variant0011
Relatedalso
Neighborrs28939070
Distance1
ClinVar
Risk rs28939069(T;T)
Alt rs28939069(T;T)
Reference rs28939069(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.116427243G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005921.2,