Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852693(G;T)
Make rs137852693(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position36517871
GeneNKX2-1
is asnp
is mentioned by
dbSNPrs137852693
ebirs137852693
HLIrs137852693
Exacrs137852693
Varsomers137852693
Maprs137852693
PheGenIrs137852693
hapmaprs137852693
1000 genomesrs137852693
hgdprs137852693
ensemblrs137852693
gopubmedrs137852693
geneviewrs137852693
scholarrs137852693
googlers137852693
pharmgkbrs137852693
gwascentralrs137852693
openSNPrs137852693
23andMers137852693
23andMe allrs137852693
SNP Nexus

SNPshotrs137852693
SNPdbers137852693
MSV3drs137852693
GWAS Ctlgrs137852693
Max Magnitude0
OMIM600635
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852693(C,T;C,T)
Alt rs137852693(C,T;C,T)
Reference rs137852693(G;G)
Significance Pathogenic
Disease Choreoathetosis
Variation info
Gene NKX2-1-AS1 NKX2-1
CLNDBN Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Reversed 1
HGVS NC_000014.8:g.36987076C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009542.3,