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rs74315377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315377(C;T)
Make rs74315377(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position168291339
GeneTBX19
is asnp
is mentioned by
dbSNPrs74315377
dbSNP (classic)rs74315377
ClinGenrs74315377
ebirs74315377
HLIrs74315377
Exacrs74315377
Gnomadrs74315377
Varsomers74315377
LitVarrs74315377
Maprs74315377
PheGenIrs74315377
Biobankrs74315377
1000 genomesrs74315377
hgdprs74315377
ensemblrs74315377
geneviewrs74315377
scholarrs74315377
googlers74315377
pharmgkbrs74315377
gwascentralrs74315377
openSNPrs74315377
23andMers74315377
SNPshotrs74315377
SNPdbers74315377
MSV3drs74315377
GWAS Ctlgrs74315377
Max Magnitude0
OMIM604614
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315377(T;T)
Alt rs74315377(T;T)
Reference Rs74315377(C;C)
Significance Pathogenic
Disease ACTH deficiency
Variation info
Gene TBX19
CLNDBN ACTH deficiency
Reversed 0
HGVS NC_000001.10:g.168260577C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005774.2,