rs116506614

Orientation

plus

Stabilized

plus

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

Make rs116506614(C;T)

Make rs116506614(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

16132227

Gene

EPHA2

is a	snp
is	mentioned by
dbSNP	rs116506614
dbSNP (classic)	rs116506614
ClinGen	rs116506614
ebi	rs116506614
HLI	rs116506614
Exac	rs116506614
Gnomad	rs116506614
Varsome	rs116506614
LitVar	rs116506614
Map	rs116506614
PheGenI	rs116506614
Biobank	rs116506614
1000 genomes	rs116506614
hgdp	rs116506614
ensembl	rs116506614
geneview	rs116506614
scholar	rs116506614
google	rs116506614
pharmgkb	rs116506614
gwascentral	rs116506614
openSNP	rs116506614
23andMe	rs116506614
SNPshot	rs116506614
SNPdbe	rs116506614
MSV3d	rs116506614
GWAS Ctlg	rs116506614

GMAF

0.0004591

Max Magnitude

0

OMIM	176946
Desc
Variant	0005
Related	also

ClinVar
Risk	rs116506614(T;T)
Alt	rs116506614(T;T)
Reference	Rs116506614(C;C)
Significance	Pathogenic
Disease	Cataract 6 Age-related cortical cataract Cortical senile cataract
Variation	info
Gene	EPHA2
CLNDBN	Cataract 6, age-related cortical Age-related cortical cataract Cortical senile cataract
Reversed	0
HGVS	NC_000001.10:g.16458722C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014172.24, RCV000368763.1, RCV000442224.1,