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rs28936696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28936696(A;G)
Make rs28936696(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position61483470
GeneTBX4
is asnp
is mentioned by
dbSNPrs28936696
ebirs28936696
HLIrs28936696
Exacrs28936696
Varsomers28936696
Maprs28936696
PheGenIrs28936696
hapmaprs28936696
1000 genomesrs28936696
hgdprs28936696
ensemblrs28936696
gopubmedrs28936696
geneviewrs28936696
scholarrs28936696
googlers28936696
pharmgkbrs28936696
gwascentralrs28936696
openSNPrs28936696
23andMers28936696
23andMe allrs28936696
SNP Nexus

SNPshotrs28936696
SNPdbers28936696
MSV3drs28936696
GWAS Ctlgrs28936696
Max Magnitude0
OMIM601719
DescSMALL PATELLA SYNDROME
Variant0003
Relatedalso


ClinVar
Risk rs28936696(G;G)
Alt rs28936696(G;G)
Reference rs28936696(A;A)
Significance Pathogenic
Disease Ischiopatellar dysplasia
Variation info
Gene TBX4
CLNDBN Ischiopatellar dysplasia
Reversed 0
HGVS NC_000017.10:g.59560831A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008307.3,