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rs371496675

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs371496675(A;T)
Make rs371496675(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position88117076
GeneCEP290
is asnp
is mentioned by
dbSNPrs371496675
ebirs371496675
HLIrs371496675
Exacrs371496675
Varsomers371496675
Maprs371496675
PheGenIrs371496675
hapmaprs371496675
1000 genomesrs371496675
hgdprs371496675
ensemblrs371496675
gopubmedrs371496675
geneviewrs371496675
scholarrs371496675
googlers371496675
pharmgkbrs371496675
gwascentralrs371496675
openSNPrs371496675
23andMers371496675
23andMe allrs371496675
SNP Nexus

SNPshotrs371496675
SNPdbers371496675
MSV3drs371496675
GWAS Ctlgrs371496675
Max Magnitude0
ClinVar
Risk rs371496675(T;T)
Alt rs371496675(T;T)
Reference rs371496675(A;A)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene CEP290
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000012.11:g.88510853A>T
CLNSRC
CLNACC RCV000225634.1,