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rs121917777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917777(G;T)
Make rs121917777(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66531692
GeneBBS1
is asnp
is mentioned by
dbSNPrs121917777
ebirs121917777
HLIrs121917777
Exacrs121917777
Varsomers121917777
Maprs121917777
PheGenIrs121917777
hapmaprs121917777
1000 genomesrs121917777
hgdprs121917777
ensemblrs121917777
gopubmedrs121917777
geneviewrs121917777
scholarrs121917777
googlers121917777
pharmgkbrs121917777
gwascentralrs121917777
openSNPrs121917777
23andMers121917777
23andMe allrs121917777
SNP Nexus

SNPshotrs121917777
SNPdbers121917777
MSV3drs121917777
GWAS Ctlgrs121917777
GMAF0.0004591
Max Magnitude0
OMIM209901
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121917777(A,T;A,T)
Alt rs121917777(A,T;A,T)
Reference rs121917777(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 1 Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome 1 Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66299163G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012927.17, RCV000169202.1,