rs387906321

Orientation

minus

Stabilized

minus

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

Make rs387906321(-;AGCGGCTGCAGCAGCTGCGGCTGCAGCCGC)

Make rs387906321(AGCGGCTGCAGCAGCTGCGGCTGCAGCCGC;AGCGGCTGCAGCAGCTGCGGCTGCAGCCGC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

138946021

Gene	FOXL2, FOXL2NB

is a	snp
is	mentioned by
dbSNP	rs387906321
dbSNP (classic)	rs387906321
ClinGen	rs387906321
ebi	rs387906321
HLI	rs387906321
Exac	rs387906321
Gnomad	rs387906321
Varsome	rs387906321
LitVar	rs387906321
Map	rs387906321
PheGenI	rs387906321
Biobank	rs387906321
1000 genomes	rs387906321
hgdp	rs387906321
ensembl	rs387906321
geneview	rs387906321
scholar	rs387906321
google	rs387906321
pharmgkb	rs387906321
gwascentral	rs387906321
openSNP	rs387906321
23andMe	rs387906321
SNPshot	rs387906321
SNPdbe	rs387906321
MSV3d	rs387906321
GWAS Ctlg	rs387906321

Max Magnitude

0

ClinVar
Risk	rs387906321(AGCGGCTGCAGCAGCTGCGGCTGCAGCCGC;AGCGGCTGCAGCAGCTGCGGCTGCAGCCGC)
Alt	rs387906321(AGCGGCTGCAGCAGCTGCGGCTGCAGCCGC;AGCGGCTGCAGCAGCTGCGGCTGCAGCCGC)
Reference	Rs387906321(-;-)
Significance	Pathogenic
Disease	Blepharophimosis syndrome type 2 Blepharophimosis
Variation	info
Gene	FOXL2 C3orf72 FOXL2NB
CLNDBN	Blepharophimosis syndrome type 2 Blepharophimosis, ptosis, and epicanthus inversus, type II with duane retraction syndrome Blepharophimosis, ptosis, and epicanthus inversus
Reversed	1
HGVS	NC_000003.11:g.138664864_138664893dup30
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005127.2, RCV000005128.2, RCV000408801.1,