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rs587777826

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777826(-;-)
Make rs587777826(-;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position56510921
GeneBBS2
is asnp
is mentioned by
dbSNPrs587777826
dbSNP (classic)rs587777826
ClinGenrs587777826
ebirs587777826
HLIrs587777826
Exacrs587777826
Gnomadrs587777826
Varsomers587777826
LitVarrs587777826
Maprs587777826
PheGenIrs587777826
Biobankrs587777826
1000 genomesrs587777826
hgdprs587777826
ensemblrs587777826
geneviewrs587777826
scholarrs587777826
googlers587777826
pharmgkbrs587777826
gwascentralrs587777826
openSNPrs587777826
23andMers587777826
SNPshotrs587777826
SNPdbers587777826
MSV3drs587777826
GWAS Ctlgrs587777826
Max Magnitude0
ClinVar
Risk rs587777826(-;-)
Alt rs587777826(-;-)
Reference Rs587777826(C;C)
Significance Pathogenic
Disease Bardet-biedl syndrome 1/2
Variation info
Gene BBS2
CLNDBN Bardet-biedl syndrome 1/2, digenic
Reversed 0
HGVS NC_000016.9:g.56544833delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004842.4,