Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516901(-;-)
Make rs1057516901(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66529902
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057516901
dbSNP (classic)rs1057516901
ClinGenrs1057516901
ebirs1057516901
HLIrs1057516901
Exacrs1057516901
Gnomadrs1057516901
Varsomers1057516901
LitVarrs1057516901
Maprs1057516901
PheGenIrs1057516901
Biobankrs1057516901
1000 genomesrs1057516901
hgdprs1057516901
ensemblrs1057516901
geneviewrs1057516901
scholarrs1057516901
googlers1057516901
pharmgkbrs1057516901
gwascentralrs1057516901
openSNPrs1057516901
23andMers1057516901
23andMe allrs1057516901
SNPshotrs1057516901
SNPdbers1057516901
MSV3drs1057516901
GWAS Ctlgrs1057516901
Max Magnitude0
ClinVar
Risk rs1057516901(-;-)
Alt rs1057516901(-;-)
Reference Rs1057516901(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.66297373delC
CLNSRC
CLNACC RCV000408994.1,