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rs387907302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907302(C;T)
Make rs387907302(T;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position2717965
GeneKCNV2
is asnp
is mentioned by
dbSNPrs387907302
dbSNP (classic)rs387907302
ClinGenrs387907302
ebirs387907302
HLIrs387907302
Exacrs387907302
Gnomadrs387907302
Varsomers387907302
LitVarrs387907302
Maprs387907302
PheGenIrs387907302
Biobankrs387907302
1000 genomesrs387907302
hgdprs387907302
ensemblrs387907302
geneviewrs387907302
scholarrs387907302
googlers387907302
pharmgkbrs387907302
gwascentralrs387907302
openSNPrs387907302
23andMers387907302
SNPshotrs387907302
SNPdbers387907302
MSV3drs387907302
GWAS Ctlgrs387907302
Max Magnitude0
ClinVar
Risk rs387907302(T;T)
Alt rs387907302(T;T)
Reference Rs387907302(C;C)
Significance Pathogenic
Disease Retinal cone dystrophy 3B
Variation info
Gene KCNV2
CLNDBN Retinal cone dystrophy 3B
Reversed 0
HGVS NC_000009.11:g.2717965C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030811.2,