rs1085307127

Orientation

minus

Stabilized

minus

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

Chromosome

20

Position

17496935

Gene

BFSP1

is a	snp
is	mentioned by
dbSNP	rs1085307127
dbSNP (classic)	rs1085307127
ClinGen	rs1085307127
ebi	rs1085307127
HLI	rs1085307127
Exac	rs1085307127
Gnomad	rs1085307127
Varsome	rs1085307127
LitVar	rs1085307127
Map	rs1085307127
PheGenI	rs1085307127
Biobank	rs1085307127
1000 genomes	rs1085307127
hgdp	rs1085307127
ensembl	rs1085307127
geneview	rs1085307127
scholar	rs1085307127
google	rs1085307127
pharmgkb	rs1085307127
gwascentral	rs1085307127
openSNP	rs1085307127
23andMe	rs1085307127
SNPshot	rs1085307127
SNPdbe	rs1085307127
MSV3d	rs1085307127
GWAS Ctlg	rs1085307127

Max Magnitude

0

ClinVar
Risk	rs1085307127(G;G)
Alt	rs1085307127(G;G)
Reference	Rs1085307127(A;A)
Significance	Pathogenic
Disease	Cataract
Variation	info
Gene	BFSP1
CLNDBN	Cataract, cortical, juvenile-onset
Reversed	1
HGVS	NC_000020.10:g.17477580T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000488441.1,