rs104893741

Orientation

minus

Stabilized

minus

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

Make rs104893741(C;T)

Make rs104893741(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

138946068

Gene	FOXL2, FOXL2NB

is a	snp
is	mentioned by
dbSNP	rs104893741
dbSNP (classic)	rs104893741
ClinGen	rs104893741
ebi	rs104893741
HLI	rs104893741
Exac	rs104893741
Gnomad	rs104893741
Varsome	rs104893741
LitVar	rs104893741
Map	rs104893741
PheGenI	rs104893741
Biobank	rs104893741
1000 genomes	rs104893741
hgdp	rs104893741
ensembl	rs104893741
geneview	rs104893741
scholar	rs104893741
google	rs104893741
pharmgkb	rs104893741
gwascentral	rs104893741
openSNP	rs104893741
23andMe	rs104893741
SNPshot	rs104893741
SNPdbe	rs104893741
MSV3d	rs104893741
GWAS Ctlg	rs104893741

Max Magnitude

0

OMIM	605597
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893741(T;T)
Alt	rs104893741(T;T)
Reference	Rs104893741(C;C)
Significance	Pathogenic
Disease	Blepharophimosis syndrome type 1 Blepharophimosis
Variation	info
Gene	FOXL2 C3orf72 FOXL2NB
CLNDBN	Blepharophimosis syndrome type 1 Blepharophimosis, ptosis, and epicanthus inversus
Reversed	1
HGVS	NC_000003.11:g.138664910G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005126.2, RCV000192033.1,