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rs1057516507

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516507(A;A)
Make rs1057516507(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66511241
GeneBBS1
is asnp
is mentioned by
dbSNPrs1057516507
dbSNP (old)rs1057516507
ClinGenrs1057516507
ebirs1057516507
HLIrs1057516507
Exacrs1057516507
Gnomadrs1057516507
Varsomers1057516507
Maprs1057516507
PheGenIrs1057516507
Biobankrs1057516507
1000 genomesrs1057516507
hgdprs1057516507
ensemblrs1057516507
gopubmedrs1057516507
geneviewrs1057516507
scholarrs1057516507
googlers1057516507
pharmgkbrs1057516507
gwascentralrs1057516507
openSNPrs1057516507
23andMers1057516507
23andMe allrs1057516507
SNPshotrs1057516507
SNPdbers1057516507
MSV3drs1057516507
GWAS Ctlgrs1057516507
Max Magnitude0
ClinVar
Risk rs1057516507(A;A)
Alt rs1057516507(A;A)
Reference Rs1057516507(T;T)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66278712T>A
CLNSRC
CLNACC RCV000410043.1,