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rs193922710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922710(C;T)
Make rs193922710(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56502382
GeneBBS2
is asnp
is mentioned by
dbSNPrs193922710
ebirs193922710
HLIrs193922710
Exacrs193922710
Varsomers193922710
Maprs193922710
PheGenIrs193922710
hapmaprs193922710
1000 genomesrs193922710
hgdprs193922710
ensemblrs193922710
gopubmedrs193922710
geneviewrs193922710
scholarrs193922710
googlers193922710
pharmgkbrs193922710
gwascentralrs193922710
openSNPrs193922710
23andMers193922710
23andMe allrs193922710
SNP Nexus

SNPshotrs193922710
SNPdbers193922710
MSV3drs193922710
GWAS Ctlgrs193922710
Max Magnitude0
ClinVar
Risk rs193922710(T;T)
Alt rs193922710(T;T)
Reference rs193922710(C;C)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome
Reversed 1
HGVS NC_000016.9:g.56536294G>A
CLNSRC ClinVar
CLNACC RCV000029406.1,