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

rs1057517031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517031(-;-)
Make rs1057517031(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76346443
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057517031
dbSNP (old)rs1057517031
ClinGenrs1057517031
ebirs1057517031
HLIrs1057517031
Exacrs1057517031
Gnomadrs1057517031
Varsomers1057517031
LitVarrs1057517031
Maprs1057517031
PheGenIrs1057517031
Biobankrs1057517031
1000 genomesrs1057517031
hgdprs1057517031
ensemblrs1057517031
gopubmedrs1057517031
geneviewrs1057517031
scholarrs1057517031
googlers1057517031
pharmgkbrs1057517031
gwascentralrs1057517031
openSNPrs1057517031
23andMers1057517031
23andMe allrs1057517031
SNPshotrs1057517031
SNPdbers1057517031
MSV3drs1057517031
GWAS Ctlgrs1057517031
Max Magnitude0
ClinVar
Risk rs1057517031(-;-)
Alt rs1057517031(-;-)
Reference Rs1057517031(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.76740223delT
CLNSRC
CLNACC RCV000411271.1,