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rs397514604

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514604(C;C)
Make rs397514604(C;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2718230
GeneKCNV2
is asnp
is mentioned by
dbSNPrs397514604
ebirs397514604
HLIrs397514604
Exacrs397514604
Varsomers397514604
Maprs397514604
PheGenIrs397514604
hapmaprs397514604
1000 genomesrs397514604
hgdprs397514604
ensemblrs397514604
gopubmedrs397514604
geneviewrs397514604
scholarrs397514604
googlers397514604
pharmgkbrs397514604
gwascentralrs397514604
openSNPrs397514604
23andMers397514604
23andMe allrs397514604
SNP Nexus

SNPshotrs397514604
SNPdbers397514604
MSV3drs397514604
GWAS Ctlgrs397514604
Max Magnitude0
ClinVar
Risk rs397514604(C;C)
Alt rs397514604(C;C)
Reference rs397514604(T;T)
Significance Pathogenic
Disease Retinal cone dystrophy 3B
Variation info
Gene KCNV2
CLNDBN Retinal cone dystrophy 3B
Reversed 0
HGVS NC_000009.11:g.2718230T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033033.3,