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rs28936672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28936672(G;T)
Make rs28936672(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position36517771
GeneNKX2-1, NKX2-1-AS1, SFTA3
is asnp
is mentioned by
dbSNPrs28936672
dbSNP (classic)rs28936672
ClinGenrs28936672
ebirs28936672
HLIrs28936672
Exacrs28936672
Gnomadrs28936672
Varsomers28936672
LitVarrs28936672
Maprs28936672
PheGenIrs28936672
Biobankrs28936672
1000 genomesrs28936672
hgdprs28936672
ensemblrs28936672
geneviewrs28936672
scholarrs28936672
googlers28936672
pharmgkbrs28936672
gwascentralrs28936672
openSNPrs28936672
23andMers28936672
SNPshotrs28936672
SNPdbers28936672
MSV3drs28936672
GWAS Ctlgrs28936672
Max Magnitude0
OMIM600635
DescCHOREA, BENIGN HEREDITARY
Variant0003
Relatedalso


ClinVar
Risk rs28936672(T;T)
Alt rs28936672(T;T)
Reference Rs28936672(G;G)
Significance Pathogenic
Disease Benign hereditary chorea not provided
Variation info
Gene NKX2-1-AS1 NKX2-1 SFTA3
CLNDBN Benign hereditary chorea not provided
Reversed 1
HGVS NC_000014.8:g.36986976C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009537.3, RCV000282710.1,