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rs730880274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880274(-;-)
Make rs730880274(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position168305062
GeneTBX19
is asnp
is mentioned by
dbSNPrs730880274
dbSNP (classic)rs730880274
ClinGenrs730880274
ebirs730880274
HLIrs730880274
Exacrs730880274
Gnomadrs730880274
Varsomers730880274
LitVarrs730880274
Maprs730880274
PheGenIrs730880274
Biobankrs730880274
1000 genomesrs730880274
hgdprs730880274
ensemblrs730880274
geneviewrs730880274
scholarrs730880274
googlers730880274
pharmgkbrs730880274
gwascentralrs730880274
openSNPrs730880274
23andMers730880274
SNPshotrs730880274
SNPdbers730880274
MSV3drs730880274
GWAS Ctlgrs730880274
Max Magnitude0
ClinVar
Risk rs730880274(-;-)
Alt rs730880274(-;-)
Reference Rs730880274(A;A)
Significance Pathogenic
Disease ACTH deficiency not provided
Variation info
Gene TBX19
CLNDBN ACTH deficiency not provided
Reversed 0
HGVS NC_000001.10:g.168274300delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005776.3, RCV000362203.1,