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rs863225300

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225300(A;A)
Make rs863225300(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position36517960
GeneNKX2-1, NKX2-1-AS1
is asnp
is mentioned by
dbSNPrs863225300
ebirs863225300
HLIrs863225300
Exacrs863225300
Varsomers863225300
Maprs863225300
PheGenIrs863225300
hapmaprs863225300
1000 genomesrs863225300
hgdprs863225300
ensemblrs863225300
gopubmedrs863225300
geneviewrs863225300
scholarrs863225300
googlers863225300
pharmgkbrs863225300
gwascentralrs863225300
openSNPrs863225300
23andMers863225300
23andMe allrs863225300
SNP Nexus

SNPshotrs863225300
SNPdbers863225300
MSV3drs863225300
GWAS Ctlgrs863225300
Max Magnitude0
ClinVar
Risk rs863225300(A;A)
Alt rs863225300(A;A)
Reference rs863225300(C;C)
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.36987165G>T
CLNSRC
CLNACC RCV000201946.1,