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rs786205636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205636(A;A)
Make rs786205636(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position169493750
GeneBBS5
is asnp
is mentioned by
dbSNPrs786205636
dbSNP (classic)rs786205636
ClinGenrs786205636
ebirs786205636
HLIrs786205636
Exacrs786205636
Gnomadrs786205636
Varsomers786205636
LitVarrs786205636
Maprs786205636
PheGenIrs786205636
Biobankrs786205636
1000 genomesrs786205636
hgdprs786205636
ensemblrs786205636
geneviewrs786205636
scholarrs786205636
googlers786205636
pharmgkbrs786205636
gwascentralrs786205636
openSNPrs786205636
23andMers786205636
SNPshotrs786205636
SNPdbers786205636
MSV3drs786205636
GWAS Ctlgrs786205636
Max Magnitude0
ClinVar
Risk rs786205636(A;A)
Alt rs786205636(A;A)
Reference Rs786205636(G;G)
Significance Probable-Pathogenic
Disease not provided Bardet-Biedl syndrome
Variation info
Gene BBS5
CLNDBN not provided Bardet-Biedl syndrome
Reversed 0
HGVS NC_000002.11:g.170350260G>A
CLNSRC
CLNACC RCV000171498.1, RCV000256439.1,