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rs113994190

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994190(C;C)
Make rs113994190(C;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position72712308
GeneBBS4
is asnp
is mentioned by
dbSNPrs113994190
ebirs113994190
HLIrs113994190
Exacrs113994190
Varsomers113994190
Maprs113994190
PheGenIrs113994190
hapmaprs113994190
1000 genomesrs113994190
hgdprs113994190
ensemblrs113994190
gopubmedrs113994190
geneviewrs113994190
scholarrs113994190
googlers113994190
pharmgkbrs113994190
gwascentralrs113994190
openSNPrs113994190
23andMers113994190
23andMe allrs113994190
SNP Nexus

SNPshotrs113994190
SNPdbers113994190
MSV3drs113994190
GWAS Ctlgrs113994190
Max Magnitude0
ClinVar
Risk rs113994190(C;C)
Alt rs113994190(C;C)
Reference rs113994190(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000015.9:g.73004649G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020933.1,