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rs121434632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434632(C;C)
Make rs121434632(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position72731574
GeneBBS4
is asnp
is mentioned by
dbSNPrs121434632
ebirs121434632
HLIrs121434632
Exacrs121434632
Varsomers121434632
Maprs121434632
PheGenIrs121434632
hapmaprs121434632
1000 genomesrs121434632
hgdprs121434632
ensemblrs121434632
gopubmedrs121434632
geneviewrs121434632
scholarrs121434632
googlers121434632
pharmgkbrs121434632
gwascentralrs121434632
openSNPrs121434632
23andMers121434632
23andMe allrs121434632
SNP Nexus

SNPshotrs121434632
SNPdbers121434632
MSV3drs121434632
GWAS Ctlgrs121434632
Max Magnitude0
OMIM600374
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434632(C;C)
Alt rs121434632(C;C)
Reference rs121434632(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 4
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome 4
Reversed 0
HGVS NC_000015.9:g.73023915G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009716.5,