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rs113994180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994180(A;G)
Make rs113994180(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position66529817
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs113994180
ebirs113994180
HLIrs113994180
Exacrs113994180
Varsomers113994180
Maprs113994180
PheGenIrs113994180
hapmaprs113994180
1000 genomesrs113994180
hgdprs113994180
ensemblrs113994180
gopubmedrs113994180
geneviewrs113994180
scholarrs113994180
googlers113994180
pharmgkbrs113994180
gwascentralrs113994180
openSNPrs113994180
23andMers113994180
23andMe allrs113994180
SNP Nexus

SNPshotrs113994180
SNPdbers113994180
MSV3drs113994180
GWAS Ctlgrs113994180
Max Magnitude0
ClinVar
Risk rs113994180(G;G)
Alt rs113994180(G;G)
Reference rs113994180(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66297288A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020904.1,