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rs28939070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939070(A;A)
Make rs28939070(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position115415014
GeneTRPS1
is asnp
is mentioned by
dbSNPrs28939070
ebirs28939070
HLIrs28939070
Exacrs28939070
Varsomers28939070
Maprs28939070
PheGenIrs28939070
hapmaprs28939070
1000 genomesrs28939070
hgdprs28939070
ensemblrs28939070
gopubmedrs28939070
geneviewrs28939070
scholarrs28939070
googlers28939070
pharmgkbrs28939070
gwascentralrs28939070
openSNPrs28939070
23andMers28939070
23andMe allrs28939070
SNP Nexus

SNPshotrs28939070
SNPdbers28939070
MSV3drs28939070
GWAS Ctlgrs28939070
Max Magnitude0
OMIM604386
DescTRICHORHINOPHALANGEAL SYNDROME, TYPE I
Variant0012
Relatedalso
Neighborrs28939069
Distance1
ClinVar
Risk rs28939070(A;A)
Alt rs28939070(A;A)
Reference rs28939070(G;G)
Significance Pathogenic
Disease Trichorhinophalangeal dysplasia type I
Variation info
Gene TRPS1
CLNDBN Trichorhinophalangeal dysplasia type I
Reversed 1
HGVS NC_000008.10:g.116427242C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005922.2,