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rs104894559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894559(C;T)
Make rs104894559(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position60150074
GeneCA4
is asnp
is mentioned by
dbSNPrs104894559
ebirs104894559
HLIrs104894559
Exacrs104894559
Varsomers104894559
Maprs104894559
PheGenIrs104894559
hapmaprs104894559
1000 genomesrs104894559
hgdprs104894559
ensemblrs104894559
gopubmedrs104894559
geneviewrs104894559
scholarrs104894559
googlers104894559
pharmgkbrs104894559
gwascentralrs104894559
openSNPrs104894559
23andMers104894559
23andMe allrs104894559
SNP Nexus

SNPshotrs104894559
SNPdbers104894559
MSV3drs104894559
GWAS Ctlgrs104894559
Max Magnitude0
OMIM114760
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894559(T;T)
Alt rs104894559(T;T)
Reference rs104894559(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 17
Variation info
Gene CA4
CLNDBN Retinitis pigmentosa 17
Reversed 0
HGVS NC_000017.10:g.58227435C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019173.24,