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

rs74315330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315330(C;T)
Make rs74315330(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636331
GeneMYOC
is asnp
is mentioned by
dbSNPrs74315330
ebirs74315330
HLIrs74315330
Exacrs74315330
Varsomers74315330
Maprs74315330
PheGenIrs74315330
hapmaprs74315330
1000 genomesrs74315330
hgdprs74315330
ensemblrs74315330
gopubmedrs74315330
geneviewrs74315330
scholarrs74315330
googlers74315330
pharmgkbrs74315330
gwascentralrs74315330
openSNPrs74315330
23andMers74315330
23andMe allrs74315330
SNP Nexus

SNPshotrs74315330
SNPdbers74315330
MSV3drs74315330
GWAS Ctlgrs74315330
Max Magnitude0
OMIM601652
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315330(T;T)
Alt rs74315330(T;T)
Reference rs74315330(C;C)
Significance Pathogenic
Disease Primary open angle glaucoma juvenile onset 1
Variation info
Gene MYOC
CLNDBN Primary open angle glaucoma juvenile onset 1
Reversed 1
HGVS NC_000001.10:g.171605471G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008411.2,


[PMID 17417611OA-icon.png] Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.