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rs121908176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908176(C;T)
Make rs121908176(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56514623
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908176
ClinGenrs121908176
ebirs121908176
HLIrs121908176
Exacrs121908176
Varsomers121908176
Maprs121908176
PheGenIrs121908176
hapmaprs121908176
1000 genomesrs121908176
hgdprs121908176
ensemblrs121908176
gopubmedrs121908176
geneviewrs121908176
scholarrs121908176
googlers121908176
pharmgkbrs121908176
gwascentralrs121908176
openSNPrs121908176
23andMers121908176
23andMe allrs121908176
SNP Nexus

SNPshotrs121908176
SNPdbers121908176
MSV3drs121908176
GWAS Ctlgrs121908176
Max Magnitude0
OMIM606151
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908176(T;T)
Alt rs121908176(T;T)
Reference Rs121908176(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.56548535G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004833.4,