rs28937884

Orientation

minus

Stabilized

minus

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

Make rs28937884(G;G)

Make rs28937884(G;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

138946472

Gene	FOXL2, FOXL2NB

is a	snp
is	mentioned by
dbSNP	rs28937884
dbSNP (classic)	rs28937884
ClinGen	rs28937884
ebi	rs28937884
HLI	rs28937884
Exac	rs28937884
Gnomad	rs28937884
Varsome	rs28937884
LitVar	rs28937884
Map	rs28937884
PheGenI	rs28937884
Biobank	rs28937884
1000 genomes	rs28937884
hgdp	rs28937884
ensembl	rs28937884
geneview	rs28937884
scholar	rs28937884
google	rs28937884
pharmgkb	rs28937884
gwascentral	rs28937884
openSNP	rs28937884
23andMe	rs28937884
SNPshot	rs28937884
SNPdbe	rs28937884
MSV3d	rs28937884
GWAS Ctlg	rs28937884

Max Magnitude

0

OMIM	605597
Desc	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
Variant	0011
Related	also

ClinVar
Risk	rs28937884(G;G)
Alt	rs28937884(G;G)
Reference	Rs28937884(T;T)
Significance	Pathogenic
Disease	Blepharophimosis syndrome type 1
Variation	info
Gene	FOXL2 C3orf72 FOXL2NB
CLNDBN	Blepharophimosis syndrome type 1
Reversed	1
HGVS	NC_000003.11:g.138665314A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005139.3,

[PMID 17277738] FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.