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rs397514602

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514602(C;C)
Make rs397514602(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77115426
GeneCAPN5
is asnp
is mentioned by
dbSNPrs397514602
ebirs397514602
HLIrs397514602
Exacrs397514602
Varsomers397514602
Maprs397514602
PheGenIrs397514602
hapmaprs397514602
1000 genomesrs397514602
hgdprs397514602
ensemblrs397514602
gopubmedrs397514602
geneviewrs397514602
scholarrs397514602
googlers397514602
pharmgkbrs397514602
gwascentralrs397514602
openSNPrs397514602
23andMers397514602
23andMe allrs397514602
SNP Nexus

SNPshotrs397514602
SNPdbers397514602
MSV3drs397514602
GWAS Ctlgrs397514602
Max Magnitude0
ClinVar
Risk rs397514602(C;C)
Alt rs397514602(C;C)
Reference rs397514602(T;T)
Significance Pathogenic
Disease Vitreoretinopathy
Variation info
Gene CAPN5
CLNDBN Vitreoretinopathy, neovascular inflammatory
Reversed 0
HGVS NC_000011.9:g.76826472T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033028.2,