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rs121908582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908582(A;G)
Make rs121908582(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position169493765
GeneBBS5
is asnp
is mentioned by
dbSNPrs121908582
ebirs121908582
HLIrs121908582
Exacrs121908582
Varsomers121908582
Maprs121908582
PheGenIrs121908582
hapmaprs121908582
1000 genomesrs121908582
hgdprs121908582
ensemblrs121908582
gopubmedrs121908582
geneviewrs121908582
scholarrs121908582
googlers121908582
pharmgkbrs121908582
gwascentralrs121908582
openSNPrs121908582
23andMers121908582
23andMe allrs121908582
SNP Nexus

SNPshotrs121908582
SNPdbers121908582
MSV3drs121908582
GWAS Ctlgrs121908582
Max Magnitude0
OMIM603650
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908582(G;G)
Alt rs121908582(G;G)
Reference rs121908582(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.170350275A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006537.3,