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rs587777825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777825(C;G)
Make rs587777825(G;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position56514681
GeneBBS2
is asnp
is mentioned by
dbSNPrs587777825
ebirs587777825
HLIrs587777825
Exacrs587777825
Varsomers587777825
Maprs587777825
PheGenIrs587777825
hapmaprs587777825
1000 genomesrs587777825
hgdprs587777825
ensemblrs587777825
gopubmedrs587777825
geneviewrs587777825
scholarrs587777825
googlers587777825
pharmgkbrs587777825
gwascentralrs587777825
openSNPrs587777825
23andMers587777825
23andMe allrs587777825
SNP Nexus

SNPshotrs587777825
SNPdbers587777825
MSV3drs587777825
GWAS Ctlgrs587777825
Max Magnitude0
ClinVar
Risk rs587777825(G;G)
Alt rs587777825(G;G)
Reference rs587777825(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 0
HGVS NC_000016.9:g.56548593C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004841.5,