Have questions? Visit https://www.reddit.com/r/SNPedia

rs116506614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116506614(C;T)
Make rs116506614(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16132227
GeneEPHA2
is asnp
is mentioned by
dbSNPrs116506614
ebirs116506614
HLIrs116506614
Exacrs116506614
Varsomers116506614
Maprs116506614
PheGenIrs116506614
hapmaprs116506614
1000 genomesrs116506614
hgdprs116506614
ensemblrs116506614
gopubmedrs116506614
geneviewrs116506614
scholarrs116506614
googlers116506614
pharmgkbrs116506614
gwascentralrs116506614
openSNPrs116506614
23andMers116506614
23andMe allrs116506614
SNP Nexus

SNPshotrs116506614
SNPdbers116506614
MSV3drs116506614
GWAS Ctlgrs116506614
GMAF0.0004591
Max Magnitude0
OMIM176946
Desc
Variant0005
Relatedalso
ClinVar
Risk rs116506614(T;T)
Alt rs116506614(T;T)
Reference rs116506614(C;C)
Significance Pathogenic
Disease Cataract 6
Variation info
Gene EPHA2
CLNDBN Cataract 6, age-related cortical
Reversed 0
HGVS NC_000001.10:g.16458722C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014172.24,