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rs113994191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994191(A;C)
Make rs113994191(C;C)
ReferenceGRCh38 38.1/142
Chromosome15
Position72722792
GeneBBS4
is asnp
is mentioned by
dbSNPrs113994191
ebirs113994191
HLIrs113994191
Exacrs113994191
Varsomers113994191
Maprs113994191
PheGenIrs113994191
hapmaprs113994191
1000 genomesrs113994191
hgdprs113994191
ensemblrs113994191
gopubmedrs113994191
geneviewrs113994191
scholarrs113994191
googlers113994191
pharmgkbrs113994191
gwascentralrs113994191
openSNPrs113994191
23andMers113994191
23andMe allrs113994191
SNP Nexus

SNPshotrs113994191
SNPdbers113994191
MSV3drs113994191
GWAS Ctlgrs113994191
Max Magnitude0
ClinVar
Risk rs113994191(C;C)
Alt rs113994191(C;C)
Reference rs113994191(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome Bardet-Biedl syndrome 4
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome Bardet-Biedl syndrome 4
Reversed 0
HGVS NC_000015.9:g.73015133A>C; NC_000015.9:g.73015133A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020934.1, RCV000207846.1,