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rs193922709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922709(A;A)
Make rs193922709(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66519695
GeneBBS1
is asnp
is mentioned by
dbSNPrs193922709
ebirs193922709
HLIrs193922709
Exacrs193922709
Varsomers193922709
Maprs193922709
PheGenIrs193922709
hapmaprs193922709
1000 genomesrs193922709
hgdprs193922709
ensemblrs193922709
gopubmedrs193922709
geneviewrs193922709
scholarrs193922709
googlers193922709
pharmgkbrs193922709
gwascentralrs193922709
openSNPrs193922709
23andMers193922709
23andMe allrs193922709
SNP Nexus

SNPshotrs193922709
SNPdbers193922709
MSV3drs193922709
GWAS Ctlgrs193922709
Max Magnitude0
ClinVar
Risk rs193922709(A;A)
Alt rs193922709(A;A)
Reference rs193922709(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66287166G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029404.1,