rs387906920

Orientation

minus

Stabilized

minus

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

Make rs387906920(A;A)

Make rs387906920(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

138946518

Gene	FOXL2, FOXL2NB

is a	snp
is	mentioned by
dbSNP	rs387906920
dbSNP (classic)	rs387906920
ClinGen	rs387906920
ebi	rs387906920
HLI	rs387906920
Exac	rs387906920
Gnomad	rs387906920
Varsome	rs387906920
LitVar	rs387906920
Map	rs387906920
PheGenI	rs387906920
Biobank	rs387906920
1000 genomes	rs387906920
hgdp	rs387906920
ensembl	rs387906920
geneview	rs387906920
scholar	rs387906920
google	rs387906920
pharmgkb	rs387906920
gwascentral	rs387906920
openSNP	rs387906920
23andMe	rs387906920
SNPshot	rs387906920
SNPdbe	rs387906920
MSV3d	rs387906920
GWAS Ctlg	rs387906920

Max Magnitude

0

ClinVar
Risk	rs387906920(A;A) rs387906920(T;T)
Alt	rs387906920(A;A) rs387906920(T;T)
Reference	Rs387906920(G;G)
Significance	Pathogenic
Disease	Blepharophimosis Blepharophimosis syndrome type 1
Variation	info
Gene	FOXL2 C3orf72
CLNDBN	Blepharophimosis, ptosis, and epicanthus inversus Blepharophimosis syndrome type 1
Reversed	1
HGVS	NC_000003.11:g.138665360C>A; NC_000003.11:g.138665360C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000408818.1, RCV000023464.2,