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rs113994179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994179(C;G)
Make rs113994179(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position66523453
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs113994179
ebirs113994179
HLIrs113994179
Exacrs113994179
Varsomers113994179
Maprs113994179
PheGenIrs113994179
hapmaprs113994179
1000 genomesrs113994179
hgdprs113994179
ensemblrs113994179
gopubmedrs113994179
geneviewrs113994179
scholarrs113994179
googlers113994179
pharmgkbrs113994179
gwascentralrs113994179
openSNPrs113994179
23andMers113994179
23andMe allrs113994179
SNP Nexus

SNPshotrs113994179
SNPdbers113994179
MSV3drs113994179
GWAS Ctlgrs113994179
Max Magnitude0
ClinVar
Risk rs113994179(G;G)
Alt rs113994179(G;G)
Reference rs113994179(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66290924C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020905.1,