Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908179

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908179(A;C)
Make rs121908179(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position56514487
GeneBBS2
is asnp
is mentioned by
dbSNPrs121908179
ebirs121908179
HLIrs121908179
Exacrs121908179
Varsomers121908179
Maprs121908179
PheGenIrs121908179
hapmaprs121908179
1000 genomesrs121908179
hgdprs121908179
ensemblrs121908179
gopubmedrs121908179
geneviewrs121908179
scholarrs121908179
googlers121908179
pharmgkbrs121908179
gwascentralrs121908179
openSNPrs121908179
23andMers121908179
23andMe allrs121908179
SNP Nexus

SNPshotrs121908179
SNPdbers121908179
MSV3drs121908179
GWAS Ctlgrs121908179
Max Magnitude0
OMIM606151
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908179(C;C)
Alt rs121908179(C;C)
Reference rs121908179(A;A)
Significance Pathogenic
Disease Bardet-biedl syndrome 1/2 Retinitis pigmentosa 74
Variation info
Gene BBS2
CLNDBN Bardet-biedl syndrome 1/2, digenic Retinitis pigmentosa 74
Reversed 1
HGVS NC_000016.9:g.56548399T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004839.5, RCV000190985.3,