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rs137854887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854887(A;G)
Make rs137854887(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position56510923
GeneBBS2
is asnp
is mentioned by
dbSNPrs137854887
ebirs137854887
HLIrs137854887
Exacrs137854887
Varsomers137854887
Maprs137854887
PheGenIrs137854887
hapmaprs137854887
1000 genomesrs137854887
hgdprs137854887
ensemblrs137854887
gopubmedrs137854887
geneviewrs137854887
scholarrs137854887
googlers137854887
pharmgkbrs137854887
gwascentralrs137854887
openSNPrs137854887
23andMers137854887
23andMe allrs137854887
SNP Nexus

SNPshotrs137854887
SNPdbers137854887
MSV3drs137854887
GWAS Ctlgrs137854887
Max Magnitude0
ClinVar
Risk rs137854887(G;G)
Alt rs137854887(G;G)
Reference rs137854887(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 1
HGVS NC_000016.9:g.56544835T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023507.4,


[PMID 20618352] A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.