rs797044532

Orientation

minus

Stabilized

minus

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

Make rs797044532(-;GCCTCCGCCGCACCCCC)

Make rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

138945851

Gene	FOXL2, FOXL2NB, LINC01391

is a	snp
is	mentioned by
dbSNP	rs797044532
dbSNP (classic)	rs797044532
ClinGen	rs797044532
ebi	rs797044532
HLI	rs797044532
Exac	rs797044532
Gnomad	rs797044532
Varsome	rs797044532
LitVar	rs797044532
Map	rs797044532
PheGenI	rs797044532
Biobank	rs797044532
1000 genomes	rs797044532
hgdp	rs797044532
ensembl	rs797044532
geneview	rs797044532
scholar	rs797044532
google	rs797044532
pharmgkb	rs797044532
gwascentral	rs797044532
openSNP	rs797044532
23andMe	rs797044532
SNPshot	rs797044532
SNPdbe	rs797044532
MSV3d	rs797044532
GWAS Ctlg	rs797044532

Max Magnitude

0

ClinVar
Risk	rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Alt	rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Reference	Rs797044532(-;-)
Significance	Pathogenic
Disease	Blepharophimosis syndrome type 1 Blepharophimosis
Variation	info
Gene	FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN	Blepharophimosis syndrome type 1 Blepharophimosis, ptosis, and epicanthus inversus
Reversed	1
HGVS	NC_000003.11:g.138664694_138664710dup17
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005142.3, RCV000192040.1,