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rs2076751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2076751(G;T)
Make rs2076751(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position36520214
GeneNKX2-1, NKX2-1-AS1, SFTA3
is asnp
is mentioned by
dbSNPrs2076751
dbSNP (old)rs2076751
ClinGenrs2076751
ebirs2076751
HLIrs2076751
Exacrs2076751
Varsomers2076751
Maprs2076751
PheGenIrs2076751
Biobankrs2076751
1000 genomesrs2076751
hgdprs2076751
ensemblrs2076751
gopubmedrs2076751
geneviewrs2076751
scholarrs2076751
googlers2076751
pharmgkbrs2076751
gwascentralrs2076751
openSNPrs2076751
23andMers2076751
23andMe allrs2076751
SNP Nexus

SNPshotrs2076751
SNPdbers2076751
MSV3drs2076751
GWAS Ctlgrs2076751
GMAF0.1056
Max Magnitude0
? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 23667675OA-icon.png]
Trait Menarche (age at onset)
Title Genome wide association study of age at menarche in the Japanese population.
Risk Allele A
P-val 7E-6
Odds Ratio .09 [0.049-0.125] year decrease


ClinVar
Risk rs2076751(C;C) rs2076751(T;T)
Alt rs2076751(C;C) rs2076751(T;T)
Reference Rs2076751(G;G)
Significance Non-pathogenic
Disease Choreoathetosis Benign hereditary chorea
Variation info
Gene NKX2-1-AS1 NKX2-1 SFTA3
CLNDBN Choreoathetosis, hypothyroidism, and neonatal respiratory distress Benign hereditary chorea
Reversed 1
HGVS NC_000014.8:g.36989419C>A
CLNSRC
CLNACC RCV000292346.1, RCV000386448.1,