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rs587777830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777830(-;-)
Make rs587777830(-;A)
ReferenceGRCh38 38.1/142
Chromosome11
Position66523476
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs587777830
ebirs587777830
HLIrs587777830
Exacrs587777830
Varsomers587777830
Maprs587777830
PheGenIrs587777830
hapmaprs587777830
1000 genomesrs587777830
hgdprs587777830
ensemblrs587777830
gopubmedrs587777830
geneviewrs587777830
scholarrs587777830
googlers587777830
pharmgkbrs587777830
gwascentralrs587777830
openSNPrs587777830
23andMers587777830
23andMe allrs587777830
SNP Nexus

SNPshotrs587777830
SNPdbers587777830
MSV3drs587777830
GWAS Ctlgrs587777830
Max Magnitude0
ClinVar
Risk rs587777830(;)
Alt rs587777830(;)
Reference rs587777830(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 1
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome 1
Reversed 0
HGVS NC_000011.9:g.66290947delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012929.26,