rs863225452

Orientation

minus

Stabilized

minus

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

Make rs863225452(-;GTGGCGCTCATCGCC)

Make rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

138946530

Gene	FOXL2, FOXL2NB

is a	snp
is	mentioned by
dbSNP	rs863225452
dbSNP (classic)	rs863225452
ClinGen	rs863225452
ebi	rs863225452
HLI	rs863225452
Exac	rs863225452
Gnomad	rs863225452
Varsome	rs863225452
LitVar	rs863225452
Map	rs863225452
PheGenI	rs863225452
Biobank	rs863225452
1000 genomes	rs863225452
hgdp	rs863225452
ensembl	rs863225452
geneview	rs863225452
scholar	rs863225452
google	rs863225452
pharmgkb	rs863225452
gwascentral	rs863225452
openSNP	rs863225452
23andMe	rs863225452
SNPshot	rs863225452
SNPdbe	rs863225452
MSV3d	rs863225452
GWAS Ctlg	rs863225452

Max Magnitude

0

ClinVar
Risk	rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)
Alt	rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)
Reference	Rs863225452(-;-)
Significance	Pathogenic
Disease	Blepharophimosis syndrome type 2
Variation	info
Gene	FOXL2 C3orf72 FOXL2NB
CLNDBN	Blepharophimosis syndrome type 2
Reversed	1
HGVS	NC_000003.11:g.138665373_138665387dupGGCGATGAGCGCCAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005131.2,