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rs869312980

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312980(A;T)
Make rs869312980(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position16176168
GeneTAPT1
is asnp
is mentioned by
dbSNPrs869312980
ebirs869312980
HLIrs869312980
Exacrs869312980
Varsomers869312980
Maprs869312980
PheGenIrs869312980
hapmaprs869312980
1000 genomesrs869312980
hgdprs869312980
ensemblrs869312980
gopubmedrs869312980
geneviewrs869312980
scholarrs869312980
googlers869312980
pharmgkbrs869312980
gwascentralrs869312980
openSNPrs869312980
23andMers869312980
23andMe allrs869312980
SNP Nexus

SNPshotrs869312980
SNPdbers869312980
MSV3drs869312980
GWAS Ctlgrs869312980
Max Magnitude0
ClinVar
Risk rs869312980(T;T)
Alt rs869312980(T;T)
Reference rs869312980(A;A)
Significance Pathogenic
Disease Osteochondrodysplasia
Variation info
Gene TAPT1
CLNDBN Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
Reversed 1
HGVS NC_000004.11:g.16177791T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210534.1,