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rs121908175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908175(C;G)
Make rs121908175(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position56519791
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908175
ebirs121908175
HLIrs121908175
Exacrs121908175
Varsomers121908175
Maprs121908175
PheGenIrs121908175
hapmaprs121908175
1000 genomesrs121908175
hgdprs121908175
ensemblrs121908175
gopubmedrs121908175
geneviewrs121908175
scholarrs121908175
googlers121908175
pharmgkbrs121908175
gwascentralrs121908175
openSNPrs121908175
23andMers121908175
23andMe allrs121908175
SNP Nexus

SNPshotrs121908175
SNPdbers121908175
MSV3drs121908175
GWAS Ctlgrs121908175
GMAF0.0004591
Max Magnitude0
OMIM606151
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908175(G;G)
Alt rs121908175(G;G)
Reference rs121908175(C;C)
Significance Pathogenic
Disease Bardet-biedl syndrome 2/6
Variation info
Gene BBS2
CLNDBN Bardet-biedl syndrome 2/6, digenic
Reversed 1
HGVS NC_000016.9:g.56553703G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004832.3,