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rs869320633

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320633(C;C)
Make rs869320633(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position16174730
GeneTAPT1
is asnp
is mentioned by
dbSNPrs869320633
ebirs869320633
HLIrs869320633
Exacrs869320633
Varsomers869320633
Maprs869320633
PheGenIrs869320633
hapmaprs869320633
1000 genomesrs869320633
hgdprs869320633
ensemblrs869320633
gopubmedrs869320633
geneviewrs869320633
scholarrs869320633
googlers869320633
pharmgkbrs869320633
gwascentralrs869320633
openSNPrs869320633
23andMers869320633
23andMe allrs869320633
SNP Nexus

SNPshotrs869320633
SNPdbers869320633
MSV3drs869320633
GWAS Ctlgrs869320633
Max Magnitude0
ClinVar
Risk rs869320633(C;C)
Alt rs869320633(C;C)
Reference rs869320633(G;G)
Significance Pathogenic
Disease Osteochondrodysplasia
Variation info
Gene TAPT1
CLNDBN Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
Reversed 1
HGVS NC_000004.11:g.16176353C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210518.1,