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rs137852838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852838(G;G)
Make rs137852838(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position76348327
GeneBBS10
is asnp
is mentioned by
dbSNPrs137852838
ebirs137852838
HLIrs137852838
Exacrs137852838
Varsomers137852838
Maprs137852838
PheGenIrs137852838
hapmaprs137852838
1000 genomesrs137852838
hgdprs137852838
ensemblrs137852838
gopubmedrs137852838
geneviewrs137852838
scholarrs137852838
googlers137852838
pharmgkbrs137852838
gwascentralrs137852838
openSNPrs137852838
23andMers137852838
23andMe allrs137852838
SNP Nexus

SNPshotrs137852838
SNPdbers137852838
MSV3drs137852838
GWAS Ctlgrs137852838
Max Magnitude0
OMIM610148
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852838(G;G)
Alt rs137852838(G;G)
Reference rs137852838(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.76742107A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001395.4,