rs797044527

Orientation

minus

Stabilized

minus

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

Make rs797044527(C;T)

Make rs797044527(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

138946073

Gene	FOXL2, FOXL2NB

is a	snp
is	mentioned by
dbSNP	rs797044527
dbSNP (classic)	rs797044527
ClinGen	rs797044527
ebi	rs797044527
HLI	rs797044527
Exac	rs797044527
Gnomad	rs797044527
Varsome	rs797044527
LitVar	rs797044527
Map	rs797044527
PheGenI	rs797044527
Biobank	rs797044527
1000 genomes	rs797044527
hgdp	rs797044527
ensembl	rs797044527
geneview	rs797044527
scholar	rs797044527
google	rs797044527
pharmgkb	rs797044527
gwascentral	rs797044527
openSNP	rs797044527
23andMe	rs797044527
SNPshot	rs797044527
SNPdbe	rs797044527
MSV3d	rs797044527
GWAS Ctlg	rs797044527

Max Magnitude

0

ClinVar
Risk	rs797044527(T;T)
Alt	rs797044527(T;T)
Reference	Rs797044527(C;C)
Significance	Pathogenic
Disease	Blepharophimosis
Variation	info
Gene	FOXL2 C3orf72 FOXL2NB
CLNDBN	Blepharophimosis, ptosis, and epicanthus inversus
Reversed	1
HGVS	NC_000003.11:g.138664915G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000192032.1,