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rs786205121

From SNPedia

Orientationplus
Geno Mag Summary
(CAAA;CAAA) 0 common in clinvar
Make rs786205121(-;-)
Make rs786205121(-;AACA)
Make rs786205121(AACA;AACA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position2717747
GeneKCNV2
is asnp
is mentioned by
dbSNPrs786205121
ebirs786205121
HLIrs786205121
Exacrs786205121
Varsomers786205121
Maprs786205121
PheGenIrs786205121
hapmaprs786205121
1000 genomesrs786205121
hgdprs786205121
ensemblrs786205121
gopubmedrs786205121
geneviewrs786205121
scholarrs786205121
googlers786205121
pharmgkbrs786205121
gwascentralrs786205121
openSNPrs786205121
23andMers786205121
23andMe allrs786205121
SNP Nexus

SNPshotrs786205121
SNPdbers786205121
MSV3drs786205121
GWAS Ctlgrs786205121
Max Magnitude0
ClinVar
Risk rs786205121(;)
Alt rs786205121(;)
Reference rs786205121(CAAA;CAAA)
Significance Pathogenic
Disease Retinal cone dystrophy 3B
Variation info
Gene KCNV2
CLNDBN Retinal cone dystrophy 3B
Reversed 0
HGVS NC_000009.11:g.2717747_2717750delAACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000033031.3,