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rs121917778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917778(C;C)
Make rs121917778(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66530973
GeneBBS1
is asnp
is mentioned by
dbSNPrs121917778
ebirs121917778
HLIrs121917778
Exacrs121917778
Varsomers121917778
Maprs121917778
PheGenIrs121917778
hapmaprs121917778
1000 genomesrs121917778
hgdprs121917778
ensemblrs121917778
gopubmedrs121917778
geneviewrs121917778
scholarrs121917778
googlers121917778
pharmgkbrs121917778
gwascentralrs121917778
openSNPrs121917778
23andMers121917778
23andMe allrs121917778
SNP Nexus

SNPshotrs121917778
SNPdbers121917778
MSV3drs121917778
GWAS Ctlgrs121917778
Max Magnitude0
OMIM209901
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121917778(C;C)
Alt rs121917778(C;C)
Reference rs121917778(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 1
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome 1
Reversed 0
HGVS NC_000011.9:g.66298444T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012930.23,