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rs137852837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852837(G;G)
Make rs137852837(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position76347054
GeneBBS10
is asnp
is mentioned by
dbSNPrs137852837
dbSNP (classic)rs137852837
ClinGenrs137852837
ebirs137852837
HLIrs137852837
Exacrs137852837
Gnomadrs137852837
Varsomers137852837
LitVarrs137852837
Maprs137852837
PheGenIrs137852837
Biobankrs137852837
1000 genomesrs137852837
hgdprs137852837
ensemblrs137852837
geneviewrs137852837
scholarrs137852837
googlers137852837
pharmgkbrs137852837
gwascentralrs137852837
openSNPrs137852837
23andMers137852837
SNPshotrs137852837
SNPdbers137852837
MSV3drs137852837
GWAS Ctlgrs137852837
Max Magnitude0
OMIM610148
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852837(G;G)
Alt rs137852837(G;G)
Reference Rs137852837(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76740834A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001394.4,