rs28931604

Orientation

minus

Stabilized

minus

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

Make rs28931604(C;T)

Make rs28931604(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

208128226

Gene	CRYGC, LOC100507443

is a	snp
is	mentioned by
dbSNP	rs28931604
dbSNP (classic)	rs28931604
ClinGen	rs28931604
ebi	rs28931604
HLI	rs28931604
Exac	rs28931604
Gnomad	rs28931604
Varsome	rs28931604
LitVar	rs28931604
Map	rs28931604
PheGenI	rs28931604
Biobank	rs28931604
1000 genomes	rs28931604
hgdp	rs28931604
ensembl	rs28931604
geneview	rs28931604
scholar	rs28931604
google	rs28931604
pharmgkb	rs28931604
gwascentral	rs28931604
openSNP	rs28931604
23andMe	rs28931604
SNPshot	rs28931604
SNPdbe	rs28931604
MSV3d	rs28931604
GWAS Ctlg	rs28931604

GMAF

0.0004591

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	123680
Desc	CATARACT, CONGENITAL LAMELLAR
Variant	0003
Related	also

ClinVar
Risk	rs28931604(T;T)
Alt	rs28931604(T;T)
Reference	Rs28931604(C;C)
Significance	Pathogenic
Disease	Cataract
Variation	info
Gene	CRYGC LOC100507443
CLNDBN	Cataract, coppock-like
Reversed	1
HGVS	NC_000002.11:g.208992950G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018454.25,