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rs121908581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908581(A;A)
Make rs121908581(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position169487811
GeneBBS5
is asnp
is mentioned by
dbSNPrs121908581
ebirs121908581
HLIrs121908581
Exacrs121908581
Varsomers121908581
Maprs121908581
PheGenIrs121908581
hapmaprs121908581
1000 genomesrs121908581
hgdprs121908581
ensemblrs121908581
gopubmedrs121908581
geneviewrs121908581
scholarrs121908581
googlers121908581
pharmgkbrs121908581
gwascentralrs121908581
openSNPrs121908581
23andMers121908581
23andMe allrs121908581
SNP Nexus

SNPshotrs121908581
SNPdbers121908581
MSV3drs121908581
GWAS Ctlgrs121908581
Max Magnitude0
OMIM603650
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908581(A;A)
Alt rs121908581(A;A)
Reference rs121908581(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 5
Variation info
Gene BBS5
CLNDBN Bardet-Biedl syndrome 5
Reversed 0
HGVS NC_000002.11:g.170344321G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006536.3,