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rs74315376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315376(C;T)
Make rs74315376(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position168305136
GeneTBX19
is asnp
is mentioned by
dbSNPrs74315376
dbSNP (classic)rs74315376
ClinGenrs74315376
ebirs74315376
HLIrs74315376
Exacrs74315376
Gnomadrs74315376
Varsomers74315376
LitVarrs74315376
Maprs74315376
PheGenIrs74315376
Biobankrs74315376
1000 genomesrs74315376
hgdprs74315376
ensemblrs74315376
geneviewrs74315376
scholarrs74315376
googlers74315376
pharmgkbrs74315376
gwascentralrs74315376
openSNPrs74315376
23andMers74315376
SNPshotrs74315376
SNPdbers74315376
MSV3drs74315376
GWAS Ctlgrs74315376
Max Magnitude0
OMIM604614
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315376(T;T)
Alt rs74315376(T;T)
Reference Rs74315376(C;C)
Significance Pathogenic
Disease ACTH deficiency
Variation info
Gene TBX19
CLNDBN ACTH deficiency
Reversed 0
HGVS NC_000001.10:g.168274374C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005773.2,