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

rs119466001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119466001(A;G)
Make rs119466001(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position121847473
GeneBBS7
is asnp
is mentioned by
dbSNPrs119466001
ebirs119466001
HLIrs119466001
Exacrs119466001
Varsomers119466001
Maprs119466001
PheGenIrs119466001
hapmaprs119466001
1000 genomesrs119466001
hgdprs119466001
ensemblrs119466001
gopubmedrs119466001
geneviewrs119466001
scholarrs119466001
googlers119466001
pharmgkbrs119466001
gwascentralrs119466001
openSNPrs119466001
23andMers119466001
23andMe allrs119466001
SNP Nexus

SNPshotrs119466001
SNPdbers119466001
MSV3drs119466001
GWAS Ctlgrs119466001
Max Magnitude0
OMIM607590
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119466001(G;G)
Alt rs119466001(G;G)
Reference rs119466001(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 7
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome 7
Reversed 1
HGVS NC_000004.11:g.122768628T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003151.3,