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rs113994189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994189(-;-)
Make rs113994189(-;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position72709480
GeneBBS4
is asnp
is mentioned by
dbSNPrs113994189
ebirs113994189
HLIrs113994189
Exacrs113994189
Varsomers113994189
Maprs113994189
PheGenIrs113994189
hapmaprs113994189
1000 genomesrs113994189
hgdprs113994189
ensemblrs113994189
gopubmedrs113994189
geneviewrs113994189
scholarrs113994189
googlers113994189
pharmgkbrs113994189
gwascentralrs113994189
openSNPrs113994189
23andMers113994189
23andMe allrs113994189
SNP Nexus

SNPshotrs113994189
SNPdbers113994189
MSV3drs113994189
GWAS Ctlgrs113994189
Max Magnitude0
OMIM600374
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994189(;)
Alt rs113994189(;)
Reference rs113994189(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome 4 Bardet-Biedl syndrome
Reversed 0
HGVS NC_000015.9:g.73001821delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009717.3, RCV000020945.2,


[PMID 11381270] Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.