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rs786204444

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204444(C;T)
Make rs786204444(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position66515543
GeneBBS1
is asnp
is mentioned by
dbSNPrs786204444
ebirs786204444
HLIrs786204444
Exacrs786204444
Varsomers786204444
Maprs786204444
PheGenIrs786204444
hapmaprs786204444
1000 genomesrs786204444
hgdprs786204444
ensemblrs786204444
gopubmedrs786204444
geneviewrs786204444
scholarrs786204444
googlers786204444
pharmgkbrs786204444
gwascentralrs786204444
openSNPrs786204444
23andMers786204444
23andMe allrs786204444
SNP Nexus

SNPshotrs786204444
SNPdbers786204444
MSV3drs786204444
GWAS Ctlgrs786204444
Max Magnitude0
ClinVar
Risk rs786204444(T;T)
Alt rs786204444(T;T)
Reference rs786204444(C;C)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66283014C>T
CLNSRC
CLNACC RCV000169066.1,