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

rs1057516449

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516449(C;C)
Make rs1057516449(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66511090
GeneBBS1
is asnp
is mentioned by
dbSNPrs1057516449
dbSNP (old)rs1057516449
ClinGenrs1057516449
ebirs1057516449
HLIrs1057516449
Exacrs1057516449
Gnomadrs1057516449
Varsomers1057516449
Maprs1057516449
PheGenIrs1057516449
Biobankrs1057516449
1000 genomesrs1057516449
hgdprs1057516449
ensemblrs1057516449
gopubmedrs1057516449
geneviewrs1057516449
scholarrs1057516449
googlers1057516449
pharmgkbrs1057516449
gwascentralrs1057516449
openSNPrs1057516449
23andMers1057516449
23andMe allrs1057516449
SNPshotrs1057516449
SNPdbers1057516449
MSV3drs1057516449
GWAS Ctlgrs1057516449
Max Magnitude0
ClinVar
Risk rs1057516449(C;C)
Alt rs1057516449(C;C)
Reference Rs1057516449(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66278561G>C
CLNSRC
CLNACC RCV000411354.1,