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rs797045155

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045155(A;A)
Make rs797045155(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position56519765
GeneBBS2
is asnp
is mentioned by
dbSNPrs797045155
ebirs797045155
HLIrs797045155
Exacrs797045155
Varsomers797045155
Maprs797045155
PheGenIrs797045155
hapmaprs797045155
1000 genomesrs797045155
hgdprs797045155
ensemblrs797045155
gopubmedrs797045155
geneviewrs797045155
scholarrs797045155
googlers797045155
pharmgkbrs797045155
gwascentralrs797045155
openSNPrs797045155
23andMers797045155
23andMe allrs797045155
SNP Nexus

SNPshotrs797045155
SNPdbers797045155
MSV3drs797045155
GWAS Ctlgrs797045155
Max Magnitude0
ClinVar
Risk rs797045155(A;A)
Alt rs797045155(A;A)
Reference rs797045155(C;C)
Significance Pathogenic
Disease Retinitis pigmentosa 74
Variation info
Gene BBS2
CLNDBN Retinitis pigmentosa 74
Reversed 1
HGVS NC_000016.9:g.56553677G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190987.2,