rs147718368

Orientation

plus

Stabilized

plus

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

Make rs147718368(A;G)

Make rs147718368(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

17498964

Gene

BFSP1

is a	snp
is	mentioned by
dbSNP	rs147718368
dbSNP (classic)	rs147718368
ClinGen	rs147718368
ebi	rs147718368
HLI	rs147718368
Exac	rs147718368
Gnomad	rs147718368
Varsome	rs147718368
LitVar	rs147718368
Map	rs147718368
PheGenI	rs147718368
Biobank	rs147718368
1000 genomes	rs147718368
hgdp	rs147718368
ensembl	rs147718368
geneview	rs147718368
scholar	rs147718368
google	rs147718368
pharmgkb	rs147718368
gwascentral	rs147718368
openSNP	rs147718368
23andMe	rs147718368
SNPshot	rs147718368
SNPdbe	rs147718368
MSV3d	rs147718368
GWAS Ctlg	rs147718368

Max Magnitude

0

ClinVar
Risk	rs147718368(G;G)
Alt	rs147718368(G;G)
Reference	Rs147718368(A;A)
Significance	Probable-Pathogenic
Disease	Congenital cataract
Variation	info
Gene	BFSP1
CLNDBN	Congenital cataract
Reversed	0
HGVS	NC_000020.10:g.17479609A>G
CLNSRC
CLNACC	RCV000203387.1,