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rs1057516451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516451(-;-)
Make rs1057516451(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66514469
GeneBBS1
is asnp
is mentioned by
dbSNPrs1057516451
dbSNP (old)rs1057516451
ClinGenrs1057516451
ebirs1057516451
HLIrs1057516451
Exacrs1057516451
Gnomadrs1057516451
Varsomers1057516451
Maprs1057516451
PheGenIrs1057516451
Biobankrs1057516451
1000 genomesrs1057516451
hgdprs1057516451
ensemblrs1057516451
gopubmedrs1057516451
geneviewrs1057516451
scholarrs1057516451
googlers1057516451
pharmgkbrs1057516451
gwascentralrs1057516451
openSNPrs1057516451
23andMers1057516451
23andMe allrs1057516451
SNPshotrs1057516451
SNPdbers1057516451
MSV3drs1057516451
GWAS Ctlgrs1057516451
Max Magnitude0
ClinVar
Risk rs1057516451(-;-)
Alt rs1057516451(-;-)
Reference Rs1057516451(CT;CT)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66281940_66281941delCT
CLNSRC
CLNACC RCV000412002.1,