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rs104894648

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894648(C;T)
Make rs104894648(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position61456674
GeneTBX4
is asnp
is mentioned by
dbSNPrs104894648
ebirs104894648
HLIrs104894648
Exacrs104894648
Varsomers104894648
Maprs104894648
PheGenIrs104894648
hapmaprs104894648
1000 genomesrs104894648
hgdprs104894648
ensemblrs104894648
gopubmedrs104894648
geneviewrs104894648
scholarrs104894648
googlers104894648
pharmgkbrs104894648
gwascentralrs104894648
openSNPrs104894648
23andMers104894648
23andMe allrs104894648
SNP Nexus

SNPshotrs104894648
SNPdbers104894648
MSV3drs104894648
GWAS Ctlgrs104894648
Max Magnitude0
OMIM601719
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894648(T;T)
Alt rs104894648(T;T)
Reference rs104894648(C;C)
Significance Pathogenic
Disease Ischiopatellar dysplasia
Variation info
Gene TBX4
CLNDBN Ischiopatellar dysplasia
Reversed 0
HGVS NC_000017.10:g.59534035C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008306.3,