rs991967

Orientation

plus

Stabilized

plus

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

Make rs991967(A;C)

Make rs991967(C;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

218442109

Gene	TGFB2, TGFB2-OT1

is a	snp
is	mentioned by
dbSNP	rs991967
dbSNP (classic)	rs991967
ClinGen	rs991967
ebi	rs991967
HLI	rs991967
Exac	rs991967
Gnomad	rs991967
Varsome	rs991967
LitVar	rs991967
Map	rs991967
PheGenI	rs991967
Biobank	rs991967
1000 genomes	rs991967
hgdp	rs991967
ensembl	rs991967
geneview	rs991967
scholar	rs991967
google	rs991967
pharmgkb	rs991967
gwascentral	rs991967
openSNP	rs991967
23andMe	rs991967
SNPshot	rs991967
SNPdbe	rs991967
MSV3d	rs991967
GWAS Ctlg	rs991967

GMAF

0.4826

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

[PMID 19710942] Sclera-related gene polymorphisms in high myopia

ClinVar
Risk	rs991967(C;C)
Alt	rs991967(C;C)
Reference	Rs991967(A;A)
Significance	Non-pathogenic
Disease	Loeys-Dietz syndrome
Variation	info
Gene	TGFB2-OT1 TGFB2
CLNDBN	Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000001.10:g.218615451A>C
CLNSRC
CLNACC	RCV000357212.1,