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rs121908180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908180(C;T)
Make rs121908180(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56506191
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908180
ebirs121908180
HLIrs121908180
Exacrs121908180
Varsomers121908180
Maprs121908180
PheGenIrs121908180
hapmaprs121908180
1000 genomesrs121908180
hgdprs121908180
ensemblrs121908180
gopubmedrs121908180
geneviewrs121908180
scholarrs121908180
googlers121908180
pharmgkbrs121908180
gwascentralrs121908180
openSNPrs121908180
23andMers121908180
23andMe allrs121908180
SNP Nexus

SNPshotrs121908180
SNPdbers121908180
MSV3drs121908180
GWAS Ctlgrs121908180
Max Magnitude0
OMIM606151
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908180(T;T)
Alt rs121908180(T;T)
Reference rs121908180(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.56540103G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004845.3,