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rs104894115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894115(A;A)
Make rs104894115(A;G)
ReferenceGRCh37 37.1/132
Chromosome9
Position2729465
GeneKCNV2
is asnp
is mentioned by
dbSNPrs104894115
ebirs104894115
HLIrs104894115
Exacrs104894115
Varsomers104894115
Maprs104894115
PheGenIrs104894115
hapmaprs104894115
1000 genomesrs104894115
hgdprs104894115
ensemblrs104894115
gopubmedrs104894115
geneviewrs104894115
scholarrs104894115
googlers104894115
pharmgkbrs104894115
gwascentralrs104894115
openSNPrs104894115
23andMers104894115
23andMe allrs104894115
SNP Nexus

SNPshotrs104894115
SNPdbers104894115
MSV3drs104894115
GWAS Ctlgrs104894115
Max Magnitude0
OMIM607604
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894115(A;A)
Alt rs104894115(A;A)
Reference rs104894115(G;G)
Significance Pathogenic
Disease Retinal cone dystrophy 3B
Variation info
Gene KCNV2
CLNDBN Retinal cone dystrophy 3B
Reversed 0
HGVS NC_000009.11:g.2729465G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003148.2,