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rs794727006

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727006(-;-)
Make rs794727006(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position66523512
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs794727006
dbSNP (classic)rs794727006
ClinGenrs794727006
ebirs794727006
HLIrs794727006
Exacrs794727006
Gnomadrs794727006
Varsomers794727006
LitVarrs794727006
Maprs794727006
PheGenIrs794727006
Biobankrs794727006
1000 genomesrs794727006
hgdprs794727006
ensemblrs794727006
geneviewrs794727006
scholarrs794727006
googlers794727006
pharmgkbrs794727006
gwascentralrs794727006
openSNPrs794727006
23andMers794727006
SNPshotrs794727006
SNPdbers794727006
MSV3drs794727006
GWAS Ctlgrs794727006
Max Magnitude0
ClinVar
Risk rs794727006(-;-)
Alt rs794727006(-;-)
Reference Rs794727006(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66290983delT
CLNSRC
CLNACC RCV000173898.1,