rs1085307126

Orientation

minus

Stabilized

minus

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

Chromosome

20

Position

17496938

Gene

BFSP1

is a	snp
is	mentioned by
dbSNP	rs1085307126
dbSNP (classic)	rs1085307126
ClinGen	rs1085307126
ebi	rs1085307126
HLI	rs1085307126
Exac	rs1085307126
Gnomad	rs1085307126
Varsome	rs1085307126
LitVar	rs1085307126
Map	rs1085307126
PheGenI	rs1085307126
Biobank	rs1085307126
1000 genomes	rs1085307126
hgdp	rs1085307126
ensembl	rs1085307126
geneview	rs1085307126
scholar	rs1085307126
google	rs1085307126
pharmgkb	rs1085307126
gwascentral	rs1085307126
openSNP	rs1085307126
23andMe	rs1085307126
SNPshot	rs1085307126
SNPdbe	rs1085307126
MSV3d	rs1085307126
GWAS Ctlg	rs1085307126

Max Magnitude

0

ClinVar
Risk	rs1085307126(A;A)
Alt	rs1085307126(A;A)
Reference	Rs1085307126(G;G)
Significance	Pathogenic
Disease	Cataract
Variation	info
Gene	BFSP1
CLNDBN	Cataract, cortical, juvenile-onset
Reversed	1
HGVS	NC_000020.10:g.17477583C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000488438.1,