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rs782092363

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs782092363(A;A)
Make rs782092363(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position53230612
GeneTKT
is asnp
is mentioned by
dbSNPrs782092363
ebirs782092363
HLIrs782092363
Exacrs782092363
Varsomers782092363
Maprs782092363
PheGenIrs782092363
hapmaprs782092363
1000 genomesrs782092363
hgdprs782092363
ensemblrs782092363
gopubmedrs782092363
geneviewrs782092363
scholarrs782092363
googlers782092363
pharmgkbrs782092363
gwascentralrs782092363
openSNPrs782092363
23andMers782092363
23andMe allrs782092363
SNP Nexus

SNPshotrs782092363
SNPdbers782092363
MSV3drs782092363
GWAS Ctlgrs782092363
Max Magnitude0
ClinVar
Risk rs782092363(A;A)
Alt rs782092363(A;A)
Reference rs782092363(G;G)
Significance Pathogenic
Disease not provided Short stature
Variation info
Gene TKT
CLNDBN not provided Short stature, developmental delay, and congenital heart defects
Reversed 0
HGVS NC_000003.11:g.53264628G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210801.1, RCV000235885.1,