rs137852693

Orientation

minus

Stabilized

minus

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

Make rs137852693(G;T)

Make rs137852693(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

36517871

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

is a	snp
is	mentioned by
dbSNP	rs137852693
dbSNP (classic)	rs137852693
ClinGen	rs137852693
ebi	rs137852693
HLI	rs137852693
Exac	rs137852693
Gnomad	rs137852693
Varsome	rs137852693
LitVar	rs137852693
Map	rs137852693
PheGenI	rs137852693
Biobank	rs137852693
1000 genomes	rs137852693
hgdp	rs137852693
ensembl	rs137852693
geneview	rs137852693
scholar	rs137852693
google	rs137852693
pharmgkb	rs137852693
gwascentral	rs137852693
openSNP	rs137852693
23andMe	rs137852693
SNPshot	rs137852693
SNPdbe	rs137852693
MSV3d	rs137852693
GWAS Ctlg	rs137852693

Max Magnitude

0

OMIM	600635
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852693(C;C) rs137852693(T;T)
Alt	rs137852693(C;C) rs137852693(T;T)
Reference	Rs137852693(G;G)
Significance	Pathogenic
Disease	Choreoathetosis
Variation	info
Gene	NKX2-1-AS1 SFTA3 NKX2-1
CLNDBN	Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Reversed	1
HGVS	NC_000014.8:g.36987076C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009542.4,