rs2076751

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2076751(G;T)

Make rs2076751(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

36520214

Gene	NKX2-1, NKX2-1-AS1, SFTA3

is a	snp
is	mentioned by
dbSNP	rs2076751
dbSNP (classic)	rs2076751
ClinGen	rs2076751
ebi	rs2076751
HLI	rs2076751
Exac	rs2076751
Gnomad	rs2076751
Varsome	rs2076751
LitVar	rs2076751
Map	rs2076751
PheGenI	rs2076751
Biobank	rs2076751
1000 genomes	rs2076751
hgdp	rs2076751
ensembl	rs2076751
geneview	rs2076751
scholar	rs2076751
google	rs2076751
pharmgkb	rs2076751
gwascentral	rs2076751
openSNP	rs2076751
23andMe	rs2076751
SNPshot	rs2076751
SNPdbe	rs2076751
MSV3d	rs2076751
GWAS Ctlg	rs2076751

GMAF

0.1056

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

GWAS snp
PMID	[PMID 23667675]
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,