rs104893738

Orientation

minus

Stabilized

minus

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

Make rs104893738(C;G)

Make rs104893738(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

138945901

Gene	FOXL2, FOXL2NB, LINC01391

is a	snp
is	mentioned by
dbSNP	rs104893738
dbSNP (classic)	rs104893738
ClinGen	rs104893738
ebi	rs104893738
HLI	rs104893738
Exac	rs104893738
Gnomad	rs104893738
Varsome	rs104893738
LitVar	rs104893738
Map	rs104893738
PheGenI	rs104893738
Biobank	rs104893738
1000 genomes	rs104893738
hgdp	rs104893738
ensembl	rs104893738
geneview	rs104893738
scholar	rs104893738
google	rs104893738
pharmgkb	rs104893738
gwascentral	rs104893738
openSNP	rs104893738
23andMe	rs104893738
SNPshot	rs104893738
SNPdbe	rs104893738
MSV3d	rs104893738
GWAS Ctlg	rs104893738

Max Magnitude

0

OMIM	605597
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104893738(G;G)
Alt	rs104893738(G;G)
Reference	Rs104893738(C;C)
Significance	Pathogenic
Disease	Blepharophimosis syndrome type 1 Blepharophimosis syndrome type 2
Variation	info
Gene	FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN	Blepharophimosis syndrome type 1 Blepharophimosis syndrome type 2
Reversed	1
HGVS	NC_000003.11:g.138664743G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005136.3, RCV000005137.3,