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rs1057516933

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516933(C;C)
Make rs1057516933(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66515692
GeneBBS1
is asnp
is mentioned by
dbSNPrs1057516933
dbSNP (old)rs1057516933
ClinGenrs1057516933
ebirs1057516933
HLIrs1057516933
Exacrs1057516933
Gnomadrs1057516933
Varsomers1057516933
Maprs1057516933
PheGenIrs1057516933
Biobankrs1057516933
1000 genomesrs1057516933
hgdprs1057516933
ensemblrs1057516933
gopubmedrs1057516933
geneviewrs1057516933
scholarrs1057516933
googlers1057516933
pharmgkbrs1057516933
gwascentralrs1057516933
openSNPrs1057516933
23andMers1057516933
23andMe allrs1057516933
SNPshotrs1057516933
SNPdbers1057516933
MSV3drs1057516933
GWAS Ctlgrs1057516933
Max Magnitude0
ClinVar
Risk rs1057516933(C;C)
Alt rs1057516933(C;C)
Reference Rs1057516933(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66283163G>C
CLNSRC
CLNACC RCV000409654.1,