rs864309704

Orientation

minus

Stabilized

minus

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

Make rs864309704(-;-)

Make rs864309704(-;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

17494580

Gene

BFSP1

is a	snp
is	mentioned by
dbSNP	rs864309704
dbSNP (classic)	rs864309704
ClinGen	rs864309704
ebi	rs864309704
HLI	rs864309704
Exac	rs864309704
Gnomad	rs864309704
Varsome	rs864309704
LitVar	rs864309704
Map	rs864309704
PheGenI	rs864309704
Biobank	rs864309704
1000 genomes	rs864309704
hgdp	rs864309704
ensembl	rs864309704
geneview	rs864309704
scholar	rs864309704
google	rs864309704
pharmgkb	rs864309704
gwascentral	rs864309704
openSNP	rs864309704
23andMe	rs864309704
SNPshot	rs864309704
SNPdbe	rs864309704
MSV3d	rs864309704
GWAS Ctlg	rs864309704

Max Magnitude

0

ClinVar
Risk	rs864309704(-;-)
Alt	rs864309704(-;-)
Reference	Rs864309704(T;T)
Significance	Probable-Pathogenic
Disease	Congenital cataract
Variation	info
Gene	BFSP1
CLNDBN	Congenital cataract
Reversed	1
HGVS	NC_000020.10:g.17475225delA
CLNSRC
CLNACC	RCV000203387.1,