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rs1057516371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516371(-;-)
Make rs1057516371(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66523753
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057516371
dbSNP (old)rs1057516371
ClinGenrs1057516371
ebirs1057516371
HLIrs1057516371
Exacrs1057516371
Gnomadrs1057516371
Varsomers1057516371
Maprs1057516371
PheGenIrs1057516371
Biobankrs1057516371
1000 genomesrs1057516371
hgdprs1057516371
ensemblrs1057516371
gopubmedrs1057516371
geneviewrs1057516371
scholarrs1057516371
googlers1057516371
pharmgkbrs1057516371
gwascentralrs1057516371
openSNPrs1057516371
23andMers1057516371
23andMe allrs1057516371
SNPshotrs1057516371
SNPdbers1057516371
MSV3drs1057516371
GWAS Ctlgrs1057516371
Max Magnitude0
ClinVar
Risk rs1057516371(-;-)
Alt rs1057516371(-;-)
Reference Rs1057516371(C;C)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66291224delC
CLNSRC
CLNACC RCV000410213.1,