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rs104894113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894113(G;T)
Make rs104894113(T;T)
ReferenceGRCh37 37.1/132
Chromosome9
Position2718166
GeneKCNV2
is asnp
is mentioned by
dbSNPrs104894113
ebirs104894113
HLIrs104894113
Exacrs104894113
Varsomers104894113
Maprs104894113
PheGenIrs104894113
hapmaprs104894113
1000 genomesrs104894113
hgdprs104894113
ensemblrs104894113
gopubmedrs104894113
geneviewrs104894113
scholarrs104894113
googlers104894113
pharmgkbrs104894113
gwascentralrs104894113
openSNPrs104894113
23andMers104894113
23andMe allrs104894113
SNP Nexus

SNPshotrs104894113
SNPdbers104894113
MSV3drs104894113
GWAS Ctlgrs104894113
Max Magnitude0
OMIM607604
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894113(A,T;A,T)
Alt rs104894113(A,T;A,T)
Reference rs104894113(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.2718166G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003146.2,