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rs587776708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776708(A;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position36518022
GeneNKX2-1, NKX2-1-AS1
is asnp
is mentioned by
dbSNPrs587776708
ebirs587776708
HLIrs587776708
Exacrs587776708
Varsomers587776708
Maprs587776708
PheGenIrs587776708
hapmaprs587776708
1000 genomesrs587776708
hgdprs587776708
ensemblrs587776708
gopubmedrs587776708
geneviewrs587776708
scholarrs587776708
googlers587776708
pharmgkbrs587776708
gwascentralrs587776708
openSNPrs587776708
23andMers587776708
23andMe allrs587776708
SNP Nexus

SNPshotrs587776708
SNPdbers587776708
MSV3drs587776708
GWAS Ctlgrs587776708
Max Magnitude0
ClinVar
Risk rs587776708(C,T;C,T)
Alt rs587776708(C,T;C,T)
Reference rs587776708(A;A)
Significance Pathogenic
Disease Benign hereditary chorea Choreoathetosis
Variation info
Gene NKX2-1-AS1 NKX2-1
CLNDBN Benign hereditary chorea Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Reversed 1
HGVS NC_000014.8:g.36987227T>A; NC_000014.8:g.36987227T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009541.3, RCV000009545.3,