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

rs1057516754

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516754(-;-)
Make rs1057516754(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76346261
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057516754
dbSNP (old)rs1057516754
ClinGenrs1057516754
ebirs1057516754
HLIrs1057516754
Exacrs1057516754
Gnomadrs1057516754
Varsomers1057516754
LitVarrs1057516754
Maprs1057516754
PheGenIrs1057516754
Biobankrs1057516754
1000 genomesrs1057516754
hgdprs1057516754
ensemblrs1057516754
gopubmedrs1057516754
geneviewrs1057516754
scholarrs1057516754
googlers1057516754
pharmgkbrs1057516754
gwascentralrs1057516754
openSNPrs1057516754
23andMers1057516754
23andMe allrs1057516754
SNPshotrs1057516754
SNPdbers1057516754
MSV3drs1057516754
GWAS Ctlgrs1057516754
Max Magnitude0
ClinVar
Risk rs1057516754(-;-)
Alt rs1057516754(-;-)
Reference Rs1057516754(C;C)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76740041delG
CLNSRC
CLNACC RCV000410139.1,