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rs35520756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35520756(A;A)
Make rs35520756(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66519725
GeneBBS1
is asnp
is mentioned by
dbSNPrs35520756
ebirs35520756
HLIrs35520756
Exacrs35520756
Varsomers35520756
Maprs35520756
PheGenIrs35520756
hapmaprs35520756
1000 genomesrs35520756
hgdprs35520756
ensemblrs35520756
gopubmedrs35520756
geneviewrs35520756
scholarrs35520756
googlers35520756
pharmgkbrs35520756
gwascentralrs35520756
openSNPrs35520756
23andMers35520756
23andMe allrs35520756
SNP Nexus

SNPshotrs35520756
SNPdbers35520756
MSV3drs35520756
GWAS Ctlgrs35520756
GMAF0.02066
Max Magnitude0
OMIM209901
Desc
Variant0006
Relatedalso
? (A;A) (A;G) (G;G)


ClinVar
Risk rs35520756(A;A)
Alt rs35520756(A;A)
Reference rs35520756(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66287196G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029405.6,



[PMID 12567324OA-icon.png] Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

[PMID 12677556OA-icon.png] Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.


GET Evidence
BBS1-E234K
aa_change Glu234Lys
aa_change_short E234K
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0343001
summary