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rs869025204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025204(C;G)
Make rs869025204(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position66511010
GeneBBS1
is asnp
is mentioned by
dbSNPrs869025204
dbSNP (classic)rs869025204
ClinGenrs869025204
ebirs869025204
HLIrs869025204
Exacrs869025204
Gnomadrs869025204
Varsomers869025204
LitVarrs869025204
Maprs869025204
PheGenIrs869025204
Biobankrs869025204
1000 genomesrs869025204
hgdprs869025204
ensemblrs869025204
geneviewrs869025204
scholarrs869025204
googlers869025204
pharmgkbrs869025204
gwascentralrs869025204
openSNPrs869025204
23andMers869025204
SNPshotrs869025204
SNPdbers869025204
MSV3drs869025204
GWAS Ctlgrs869025204
Max Magnitude0
ClinVar
Risk rs869025204(G;G)
Alt rs869025204(G;G)
Reference Rs869025204(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66278481C>G
CLNSRC
CLNACC RCV000207828.1,