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rs104894116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894116(C;G)
Make rs104894116(G;G)
ReferenceGRCh37 37.1/132
Chromosome9
Position2718506
GeneKCNV2
is asnp
is mentioned by
dbSNPrs104894116
ebirs104894116
HLIrs104894116
Exacrs104894116
Varsomers104894116
Maprs104894116
PheGenIrs104894116
hapmaprs104894116
1000 genomesrs104894116
hgdprs104894116
ensemblrs104894116
gopubmedrs104894116
geneviewrs104894116
scholarrs104894116
googlers104894116
pharmgkbrs104894116
gwascentralrs104894116
openSNPrs104894116
23andMers104894116
23andMe allrs104894116
SNP Nexus

SNPshotrs104894116
SNPdbers104894116
MSV3drs104894116
GWAS Ctlgrs104894116
Max Magnitude0
OMIM607604
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894116(G,T;G,T)
Alt rs104894116(G,T;G,T)
Reference rs104894116(C;C)
Significance Pathogenic
Disease Retinal cone dystrophy 3B
Variation info
Gene KCNV2
CLNDBN Retinal cone dystrophy 3B
Reversed 0
HGVS NC_000009.11:g.2718506C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003150.2,