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rs28936671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28936671(A;A)
Make rs28936671(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position36517757
GeneNKX2-1, NKX2-1-AS1, SFTA3
is asnp
is mentioned by
dbSNPrs28936671
dbSNP (classic)rs28936671
ClinGenrs28936671
ebirs28936671
HLIrs28936671
Exacrs28936671
Gnomadrs28936671
Varsomers28936671
LitVarrs28936671
Maprs28936671
PheGenIrs28936671
Biobankrs28936671
1000 genomesrs28936671
hgdprs28936671
ensemblrs28936671
geneviewrs28936671
scholarrs28936671
googlers28936671
pharmgkbrs28936671
gwascentralrs28936671
openSNPrs28936671
23andMers28936671
SNPshotrs28936671
SNPdbers28936671
MSV3drs28936671
GWAS Ctlgrs28936671
Max Magnitude0
OMIM600635
DescCHOREA, BENIGN HEREDITARY
Variant0002
Relatedalso


ClinVar
Risk rs28936671(A;A)
Alt rs28936671(A;A)
Reference Rs28936671(C;C)
Significance Pathogenic
Disease Benign hereditary chorea
Variation info
Gene NKX2-1-AS1 NKX2-1 SFTA3
CLNDBN Benign hereditary chorea
Reversed 1
HGVS NC_000014.8:g.36986962G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009536.4,