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rs121908178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908178(C;T)
Make rs121908178(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56502454
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908178
ebirs121908178
HLIrs121908178
Exacrs121908178
Varsomers121908178
Maprs121908178
PheGenIrs121908178
hapmaprs121908178
1000 genomesrs121908178
hgdprs121908178
ensemblrs121908178
gopubmedrs121908178
geneviewrs121908178
scholarrs121908178
googlers121908178
pharmgkbrs121908178
gwascentralrs121908178
openSNPrs121908178
23andMers121908178
23andMe allrs121908178
SNP Nexus

SNPshotrs121908178
SNPdbers121908178
MSV3drs121908178
GWAS Ctlgrs121908178
Max Magnitude0
OMIM606151
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908178(T;T)
Alt rs121908178(T;T)
Reference rs121908178(C;C)
Significance Pathogenic
Disease Bardet-biedl syndrome 2/4
Variation info
Gene BBS2
CLNDBN Bardet-biedl syndrome 2/4, digenic
Reversed 1
HGVS NC_000016.9:g.56536366G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004835.3,