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rs140256288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140256288(A;A)
Make rs140256288(A;G)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2718181
GeneKCNV2
is asnp
is mentioned by
dbSNPrs140256288
ebirs140256288
HLIrs140256288
Exacrs140256288
Varsomers140256288
Maprs140256288
PheGenIrs140256288
hapmaprs140256288
1000 genomesrs140256288
hgdprs140256288
ensemblrs140256288
gopubmedrs140256288
geneviewrs140256288
scholarrs140256288
googlers140256288
pharmgkbrs140256288
gwascentralrs140256288
openSNPrs140256288
23andMers140256288
23andMe allrs140256288
SNP Nexus

SNPshotrs140256288
SNPdbers140256288
MSV3drs140256288
GWAS Ctlgrs140256288
Max Magnitude0
ClinVar
Risk rs140256288(A,T;A,T)
Alt rs140256288(A,T;A,T)
Reference rs140256288(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.2718181G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033032.2,