rs1057516180

Orientation

minus

Stabilized

minus

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

Make rs1057516180(A;A)

Make rs1057516180(A;CC)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

138945866

Gene	FOXL2, FOXL2NB, LINC01391

is a	snp
is	mentioned by
dbSNP	rs1057516180
dbSNP (classic)	rs1057516180
ClinGen	rs1057516180
ebi	rs1057516180
HLI	rs1057516180
Exac	rs1057516180
Gnomad	rs1057516180
Varsome	rs1057516180
LitVar	rs1057516180
Map	rs1057516180
PheGenI	rs1057516180
Biobank	rs1057516180
1000 genomes	rs1057516180
hgdp	rs1057516180
ensembl	rs1057516180
geneview	rs1057516180
scholar	rs1057516180
google	rs1057516180
pharmgkb	rs1057516180
gwascentral	rs1057516180
openSNP	rs1057516180
23andMe	rs1057516180
SNPshot	rs1057516180
SNPdbe	rs1057516180
MSV3d	rs1057516180
GWAS Ctlg	rs1057516180

Max Magnitude

0

ClinVar
Risk	rs1057516180(A;A)
Alt	rs1057516180(A;A)
Reference	Rs1057516180(CC;CC)
Significance	Pathogenic
Disease	Blepharophimosis
Variation	info
Gene	FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN	Blepharophimosis, ptosis, and epicanthus inversus
Reversed	1
HGVS	NC_000003.11:g.138664708_138664709delGGinsT
CLNSRC
CLNACC	RCV000408840.1,