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rs878853352

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs878853352(AGA;AGA)
Make rs878853352(AGA;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position121828692
GeneBBS7
is asnp
is mentioned by
dbSNPrs878853352
ebirs878853352
HLIrs878853352
Exacrs878853352
Varsomers878853352
Maprs878853352
PheGenIrs878853352
hapmaprs878853352
1000 genomesrs878853352
hgdprs878853352
ensemblrs878853352
gopubmedrs878853352
geneviewrs878853352
scholarrs878853352
googlers878853352
pharmgkbrs878853352
gwascentralrs878853352
openSNPrs878853352
23andMers878853352
23andMe allrs878853352
SNP Nexus

SNPshotrs878853352
SNPdbers878853352
MSV3drs878853352
GWAS Ctlgrs878853352
Max Magnitude0
ClinVar
Risk rs878853352(AGA;AGA)
Alt rs878853352(AGA;AGA)
Reference rs878853352(CT;CT)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene BBS7
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000004.11:g.122749847_122749848delAGinsTCT
CLNSRC
CLNACC RCV000225449.1,