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rs121434552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434552(A;A)
Make rs121434552(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position60156653
GeneCA4
is asnp
is mentioned by
dbSNPrs121434552
ebirs121434552
HLIrs121434552
Exacrs121434552
Varsomers121434552
Maprs121434552
PheGenIrs121434552
hapmaprs121434552
1000 genomesrs121434552
hgdprs121434552
ensemblrs121434552
gopubmedrs121434552
geneviewrs121434552
scholarrs121434552
googlers121434552
pharmgkbrs121434552
gwascentralrs121434552
openSNPrs121434552
23andMers121434552
23andMe allrs121434552
SNP Nexus

SNPshotrs121434552
SNPdbers121434552
MSV3drs121434552
GWAS Ctlgrs121434552
Max Magnitude0
OMIM114760
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434552(A;A)
Alt rs121434552(A;A)
Reference rs121434552(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 17
Variation info
Gene CA4
CLNDBN Retinitis pigmentosa 17
Reversed 0
HGVS NC_000017.10:g.58234014G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019175.28,