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rs74315378

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315378(G;G)
Make rs74315378(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position168291213
GeneTBX19
is asnp
is mentioned by
dbSNPrs74315378
ebirs74315378
HLIrs74315378
Exacrs74315378
Varsomers74315378
Maprs74315378
PheGenIrs74315378
hapmaprs74315378
1000 genomesrs74315378
hgdprs74315378
ensemblrs74315378
gopubmedrs74315378
geneviewrs74315378
scholarrs74315378
googlers74315378
pharmgkbrs74315378
gwascentralrs74315378
openSNPrs74315378
23andMers74315378
23andMe allrs74315378
SNP Nexus

SNPshotrs74315378
SNPdbers74315378
MSV3drs74315378
GWAS Ctlgrs74315378
Max Magnitude0
OMIM604614
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315378(G;G)
Alt rs74315378(G;G)
Reference rs74315378(T;T)
Significance Pathogenic
Disease ACTH deficiency
Variation info
Gene TBX19
CLNDBN ACTH deficiency
Reversed 0
HGVS NC_000001.10:g.168260451T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005775.3,