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rs1057516502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516502(A;G)
Make rs1057516502(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66515859
GeneBBS1
is asnp
is mentioned by
dbSNPrs1057516502
dbSNP (old)rs1057516502
ClinGenrs1057516502
ebirs1057516502
HLIrs1057516502
Exacrs1057516502
Gnomadrs1057516502
Varsomers1057516502
LitVarrs1057516502
Maprs1057516502
PheGenIrs1057516502
Biobankrs1057516502
1000 genomesrs1057516502
hgdprs1057516502
ensemblrs1057516502
gopubmedrs1057516502
geneviewrs1057516502
scholarrs1057516502
googlers1057516502
pharmgkbrs1057516502
gwascentralrs1057516502
openSNPrs1057516502
23andMers1057516502
23andMe allrs1057516502
SNPshotrs1057516502
SNPdbers1057516502
MSV3drs1057516502
GWAS Ctlgrs1057516502
Max Magnitude0
ClinVar
Risk rs1057516502(G;G)
Alt rs1057516502(G;G)
Reference Rs1057516502(A;A)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66283330A>G
CLNSRC
CLNACC RCV000411894.1,