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rs104894114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894114(G;T)
Make rs104894114(T;T)
ReferenceGRCh37 37.1/132
Chromosome9
Position2718655
GeneKCNV2
is asnp
is mentioned by
dbSNPrs104894114
ebirs104894114
HLIrs104894114
Exacrs104894114
Varsomers104894114
Maprs104894114
PheGenIrs104894114
hapmaprs104894114
1000 genomesrs104894114
hgdprs104894114
ensemblrs104894114
gopubmedrs104894114
geneviewrs104894114
scholarrs104894114
googlers104894114
pharmgkbrs104894114
gwascentralrs104894114
openSNPrs104894114
23andMers104894114
23andMe allrs104894114
SNP Nexus

SNPshotrs104894114
SNPdbers104894114
MSV3drs104894114
GWAS Ctlgrs104894114
Max Magnitude0
OMIM607604
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894114(A,T;A,T)
Alt rs104894114(A,T;A,T)
Reference rs104894114(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.2718655G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003147.2,