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

rs119466002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119466002(C;T)
Make rs119466002(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position121854790
GeneBBS7
is asnp
is mentioned by
dbSNPrs119466002
ebirs119466002
HLIrs119466002
Exacrs119466002
Varsomers119466002
Maprs119466002
PheGenIrs119466002
hapmaprs119466002
1000 genomesrs119466002
hgdprs119466002
ensemblrs119466002
gopubmedrs119466002
geneviewrs119466002
scholarrs119466002
googlers119466002
pharmgkbrs119466002
gwascentralrs119466002
openSNPrs119466002
23andMers119466002
23andMe allrs119466002
SNP Nexus

SNPshotrs119466002
SNPdbers119466002
MSV3drs119466002
GWAS Ctlgrs119466002
Max Magnitude0
OMIM607590
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119466002(T;T)
Alt rs119466002(T;T)
Reference rs119466002(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome 1/7
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome 1/7, digenic
Reversed 1
HGVS NC_000004.11:g.122775945G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003152.3,