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rs587777828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777828(A;G)
Make rs587777828(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position169493012
GeneBBS5
is asnp
is mentioned by
dbSNPrs587777828
ebirs587777828
HLIrs587777828
Exacrs587777828
Varsomers587777828
Maprs587777828
PheGenIrs587777828
hapmaprs587777828
1000 genomesrs587777828
hgdprs587777828
ensemblrs587777828
gopubmedrs587777828
geneviewrs587777828
scholarrs587777828
googlers587777828
pharmgkbrs587777828
gwascentralrs587777828
openSNPrs587777828
23andMers587777828
23andMe allrs587777828
SNP Nexus

SNPshotrs587777828
SNPdbers587777828
MSV3drs587777828
GWAS Ctlgrs587777828
Max Magnitude0
ClinVar
Risk rs587777828(G;G)
Alt rs587777828(G;G)
Reference rs587777828(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 5
Variation info
Gene BBS5
CLNDBN Bardet-Biedl syndrome 5
Reversed 0
HGVS NC_000002.11:g.170349522A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006532.3,