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rs786204575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204575(C;C)
Make rs786204575(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position76346744
GeneBBS10
is asnp
is mentioned by
dbSNPrs786204575
dbSNP (classic)rs786204575
ClinGenrs786204575
ebirs786204575
HLIrs786204575
Exacrs786204575
Gnomadrs786204575
Varsomers786204575
LitVarrs786204575
Maprs786204575
PheGenIrs786204575
Biobankrs786204575
1000 genomesrs786204575
hgdprs786204575
ensemblrs786204575
geneviewrs786204575
scholarrs786204575
googlers786204575
pharmgkbrs786204575
gwascentralrs786204575
openSNPrs786204575
23andMers786204575
SNPshotrs786204575
SNPdbers786204575
MSV3drs786204575
GWAS Ctlgrs786204575
Max Magnitude0
ClinVar
Risk rs786204575(C;C)
Alt rs786204575(C;C)
Reference Rs786204575(T;T)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76740524A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000169317.1,