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rs121908177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908177(C;T)
Make rs121908177(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56502790
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908177
ebirs121908177
HLIrs121908177
Exacrs121908177
Varsomers121908177
Maprs121908177
PheGenIrs121908177
hapmaprs121908177
1000 genomesrs121908177
hgdprs121908177
ensemblrs121908177
gopubmedrs121908177
geneviewrs121908177
scholarrs121908177
googlers121908177
pharmgkbrs121908177
gwascentralrs121908177
openSNPrs121908177
23andMers121908177
23andMe allrs121908177
SNP Nexus

SNPshotrs121908177
SNPdbers121908177
MSV3drs121908177
GWAS Ctlgrs121908177
Max Magnitude0
OMIM606151
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908177(T;T)
Alt rs121908177(T;T)
Reference rs121908177(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 1
HGVS NC_000016.9:g.56536702G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004834.3,