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

rs587776709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587776709(-;C)
Make rs587776709(C;C)
ReferenceGRCh38 38.1/142
Chromosome14
Position36519104
GeneNKX2-1, NKX2-1-AS1, SFTA3
is asnp
is mentioned by
dbSNPrs587776709
dbSNP (classic)rs587776709
ClinGenrs587776709
ebirs587776709
HLIrs587776709
Exacrs587776709
Gnomadrs587776709
Varsomers587776709
LitVarrs587776709
Maprs587776709
PheGenIrs587776709
Biobankrs587776709
1000 genomesrs587776709
hgdprs587776709
ensemblrs587776709
geneviewrs587776709
scholarrs587776709
googlers587776709
pharmgkbrs587776709
gwascentralrs587776709
openSNPrs587776709
23andMers587776709
SNPshotrs587776709
SNPdbers587776709
MSV3drs587776709
GWAS Ctlgrs587776709
Max Magnitude0
ClinVar
Risk rs587776709(C;C)
Alt rs587776709(C;C)
Reference Rs587776709(-;-)
Significance Pathogenic
Disease Choreoathetosis
Variation info
Gene NKX2-1-AS1 SFTA3 NKX2-1
CLNDBN Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Reversed 0
HGVS NC_000014.8:g.36988309dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009544.4,