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rs28938474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28938474(G;T)
Make rs28938474(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position61479921
GeneTBX4
is asnp
is mentioned by
dbSNPrs28938474
ebirs28938474
HLIrs28938474
Exacrs28938474
Varsomers28938474
Maprs28938474
PheGenIrs28938474
hapmaprs28938474
1000 genomesrs28938474
hgdprs28938474
ensemblrs28938474
gopubmedrs28938474
geneviewrs28938474
scholarrs28938474
googlers28938474
pharmgkbrs28938474
gwascentralrs28938474
openSNPrs28938474
23andMers28938474
23andMe allrs28938474
SNP Nexus

SNPshotrs28938474
SNPdbers28938474
MSV3drs28938474
GWAS Ctlgrs28938474
Max Magnitude0
OMIM601719
DescSMALL PATELLA SYNDROME
Variant0001
Relatedalso


ClinVar
Risk rs28938474(T;T)
Alt rs28938474(T;T)
Reference rs28938474(G;G)
Significance Pathogenic
Disease Ischiopatellar dysplasia
Variation info
Gene TBX4
CLNDBN Ischiopatellar dysplasia
Reversed 0
HGVS NC_000017.10:g.59557282G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008305.4,