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rs1057516240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516240(A;T)
Make rs1057516240(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76347624
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057516240
dbSNP (old)rs1057516240
ClinGenrs1057516240
ebirs1057516240
HLIrs1057516240
Exacrs1057516240
Gnomadrs1057516240
Varsomers1057516240
Maprs1057516240
PheGenIrs1057516240
Biobankrs1057516240
1000 genomesrs1057516240
hgdprs1057516240
ensemblrs1057516240
gopubmedrs1057516240
geneviewrs1057516240
scholarrs1057516240
googlers1057516240
pharmgkbrs1057516240
gwascentralrs1057516240
openSNPrs1057516240
23andMers1057516240
23andMe allrs1057516240
SNPshotrs1057516240
SNPdbers1057516240
MSV3drs1057516240
GWAS Ctlgrs1057516240
Max Magnitude0
ClinVar
Risk rs1057516240(T;T)
Alt rs1057516240(T;T)
Reference Rs1057516240(A;A)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76741404T>A
CLNSRC
CLNACC RCV000410231.1,