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rs200197424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200197424(C;T)
Make rs200197424(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position168293210
GeneTBX19
is asnp
is mentioned by
dbSNPrs200197424
dbSNP (old)rs200197424
ClinGenrs200197424
ebirs200197424
HLIrs200197424
Exacrs200197424
Gnomadrs200197424
Varsomers200197424
Maprs200197424
PheGenIrs200197424
Biobankrs200197424
1000 genomesrs200197424
hgdprs200197424
ensemblrs200197424
gopubmedrs200197424
geneviewrs200197424
scholarrs200197424
googlers200197424
pharmgkbrs200197424
gwascentralrs200197424
openSNPrs200197424
23andMers200197424
23andMe allrs200197424
SNPshotrs200197424
SNPdbers200197424
MSV3drs200197424
GWAS Ctlgrs200197424
Max Magnitude0
ClinVar
Risk rs200197424(T;T)
Alt rs200197424(T;T)
Reference Rs200197424(C;C)
Significance Probable-Pathogenic
Disease ACTH deficiency
Variation info
Gene TBX19
CLNDBN ACTH deficiency
Reversed 0
HGVS NC_000001.10:g.168262448C>T
CLNSRC Illumina
CLNACC RCV000406538.1,