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rs121908181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908181(G;T)
Make rs121908181(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56511214
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908181
ebirs121908181
HLIrs121908181
Exacrs121908181
Varsomers121908181
Maprs121908181
PheGenIrs121908181
hapmaprs121908181
1000 genomesrs121908181
hgdprs121908181
ensemblrs121908181
gopubmedrs121908181
geneviewrs121908181
scholarrs121908181
googlers121908181
pharmgkbrs121908181
gwascentralrs121908181
openSNPrs121908181
23andMers121908181
23andMe allrs121908181
SNP Nexus

SNPshotrs121908181
SNPdbers121908181
MSV3drs121908181
GWAS Ctlgrs121908181
Max Magnitude0
OMIM606151
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121908181(T;T)
Alt rs121908181(T;T)
Reference rs121908181(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 1
HGVS NC_000016.9:g.56545126C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004846.3,