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rs193922711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922711(-;-)
Make rs193922711(-;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56497770
GeneBBS2
is asnp
is mentioned by
dbSNPrs193922711
ebirs193922711
HLIrs193922711
Exacrs193922711
Varsomers193922711
Maprs193922711
PheGenIrs193922711
hapmaprs193922711
1000 genomesrs193922711
hgdprs193922711
ensemblrs193922711
gopubmedrs193922711
geneviewrs193922711
scholarrs193922711
googlers193922711
pharmgkbrs193922711
gwascentralrs193922711
openSNPrs193922711
23andMers193922711
23andMe allrs193922711
SNP Nexus

SNPshotrs193922711
SNPdbers193922711
MSV3drs193922711
GWAS Ctlgrs193922711
Max Magnitude0
ClinVar
Risk rs193922711(;)
Alt rs193922711(;)
Reference rs193922711(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome Bardet-Biedl syndrome 2
Reversed 1
HGVS NC_000016.9:g.56531682delA
CLNSRC ClinVar LabCorp
CLNACC RCV000029407.1, RCV000190358.1,