rs74315490

Orientation

plus

Stabilized

plus

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

Make rs74315490(C;C)

Make rs74315490(C;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

25207069

Gene

CRYBB3

is a	snp
is	mentioned by
dbSNP	rs74315490
dbSNP (classic)	rs74315490
ClinGen	rs74315490
ebi	rs74315490
HLI	rs74315490
Exac	rs74315490
Gnomad	rs74315490
Varsome	rs74315490
LitVar	rs74315490
Map	rs74315490
PheGenI	rs74315490
Biobank	rs74315490
1000 genomes	rs74315490
hgdp	rs74315490
ensembl	rs74315490
geneview	rs74315490
scholar	rs74315490
google	rs74315490
pharmgkb	rs74315490
gwascentral	rs74315490
openSNP	rs74315490
23andMe	rs74315490
SNPshot	rs74315490
SNPdbe	rs74315490
MSV3d	rs74315490
GWAS Ctlg	rs74315490

Max Magnitude

0

OMIM	123630
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315490(A;A) rs74315490(C;C)
Alt	rs74315490(A;A) rs74315490(C;C)
Reference	Rs74315490(G;G)
Significance	Pathogenic
Disease	Cataract Congenital cataract
Variation	info
Gene	CRYBB3
CLNDBN	Cataract, congenital nuclear, autosomal recessive 2 Congenital cataract
Reversed	0
HGVS	NC_000022.10:g.25603036G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018457.25, RCV000203352.1,