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rs786205064

From SNPedia

Orientationplus
Geno Mag Summary
(ACCTGGTGG;ACCTGGTGG) 0 common in clinvar
Make rs786205064(-;-)
Make rs786205064(-;ACCTGGTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position2718755
GeneKCNV2
is asnp
is mentioned by
dbSNPrs786205064
ebirs786205064
HLIrs786205064
Exacrs786205064
Varsomers786205064
Maprs786205064
PheGenIrs786205064
hapmaprs786205064
1000 genomesrs786205064
hgdprs786205064
ensemblrs786205064
gopubmedrs786205064
geneviewrs786205064
scholarrs786205064
googlers786205064
pharmgkbrs786205064
gwascentralrs786205064
openSNPrs786205064
23andMers786205064
23andMe allrs786205064
SNP Nexus

SNPshotrs786205064
SNPdbers786205064
MSV3drs786205064
GWAS Ctlgrs786205064
Max Magnitude0
ClinVar
Risk rs786205064(;)
Alt rs786205064(;)
Reference rs786205064(ACCTGGTGG;ACCTGGTGG)
Significance Pathogenic
Disease Retinal cone dystrophy 3B
Variation info
Gene KCNV2
CLNDBN Retinal cone dystrophy 3B
Reversed 0
HGVS NC_000009.11:g.2718755_2718763delACCTGGTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003149.3,