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

rs137852692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852692(G;T)
Make rs137852692(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position36517781
GeneNKX2-1
is asnp
is mentioned by
dbSNPrs137852692
ebirs137852692
HLIrs137852692
Exacrs137852692
Varsomers137852692
Maprs137852692
PheGenIrs137852692
hapmaprs137852692
1000 genomesrs137852692
hgdprs137852692
ensemblrs137852692
gopubmedrs137852692
geneviewrs137852692
scholarrs137852692
googlers137852692
pharmgkbrs137852692
gwascentralrs137852692
openSNPrs137852692
23andMers137852692
23andMe allrs137852692
SNP Nexus

SNPshotrs137852692
SNPdbers137852692
MSV3drs137852692
GWAS Ctlgrs137852692
Max Magnitude0
OMIM600635
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852692(T;T)
Alt rs137852692(T;T)
Reference rs137852692(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.36986986C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009539.3,