rs104893737

Orientation

minus

Stabilized

minus

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

Make rs104893737(C;T)

Make rs104893737(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

138946566

Gene	FOXL2, FOXL2NB

is a	snp
is	mentioned by
dbSNP	rs104893737
dbSNP (classic)	rs104893737
ClinGen	rs104893737
ebi	rs104893737
HLI	rs104893737
Exac	rs104893737
Gnomad	rs104893737
Varsome	rs104893737
LitVar	rs104893737
Map	rs104893737
PheGenI	rs104893737
Biobank	rs104893737
1000 genomes	rs104893737
hgdp	rs104893737
ensembl	rs104893737
geneview	rs104893737
scholar	rs104893737
google	rs104893737
pharmgkb	rs104893737
gwascentral	rs104893737
openSNP	rs104893737
23andMe	rs104893737
SNPshot	rs104893737
SNPdbe	rs104893737
MSV3d	rs104893737
GWAS Ctlg	rs104893737

Max Magnitude

0

OMIM	605597
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104893737(T;T)
Alt	rs104893737(T;T)
Reference	Rs104893737(C;C)
Significance	Pathogenic
Disease	Blepharophimosis syndrome type 1
Variation	info
Gene	FOXL2 FOXL2NB C3orf72
CLNDBN	Blepharophimosis syndrome type 1
Reversed	1
HGVS	NC_000003.11:g.138665408G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005135.3,