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rs1057516836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516836(-;TC)
Make rs1057516836(TC;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76347125
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057516836
dbSNP (classic)rs1057516836
ClinGenrs1057516836
ebirs1057516836
HLIrs1057516836
Exacrs1057516836
Gnomadrs1057516836
Varsomers1057516836
LitVarrs1057516836
Maprs1057516836
PheGenIrs1057516836
Biobankrs1057516836
1000 genomesrs1057516836
hgdprs1057516836
ensemblrs1057516836
geneviewrs1057516836
scholarrs1057516836
googlers1057516836
pharmgkbrs1057516836
gwascentralrs1057516836
openSNPrs1057516836
23andMers1057516836
SNPshotrs1057516836
SNPdbers1057516836
MSV3drs1057516836
GWAS Ctlgrs1057516836
Max Magnitude0
ClinVar
Risk rs1057516836(TC;TC)
Alt rs1057516836(TC;TC)
Reference Rs1057516836(-;-)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76740906_76740907dupGA
CLNSRC
CLNACC RCV000411839.1,