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rs587777836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGGAA;CTGGAA) 0 common in clinvar
Make rs587777836(-;-)
Make rs587777836(-;CTGGAA)
ReferenceGRCh38 38.1/142
Chromosome4
Position121833310
GeneBBS7
is asnp
is mentioned by
dbSNPrs587777836
ebirs587777836
HLIrs587777836
Exacrs587777836
Varsomers587777836
Maprs587777836
PheGenIrs587777836
hapmaprs587777836
1000 genomesrs587777836
hgdprs587777836
ensemblrs587777836
gopubmedrs587777836
geneviewrs587777836
scholarrs587777836
googlers587777836
pharmgkbrs587777836
gwascentralrs587777836
openSNPrs587777836
23andMers587777836
23andMe allrs587777836
SNP Nexus

SNPshotrs587777836
SNPdbers587777836
MSV3drs587777836
GWAS Ctlgrs587777836
Max Magnitude0
ClinVar
Risk rs587777836(;)
Alt rs587777836(;)
Reference rs587777836(CTGGAA;CTGGAA)
Significance Pathogenic
Disease Bardet-Biedl syndrome 7
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome 7
Reversed 0
HGVS NC_000004.11:g.122754465_122754470delCTGGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023657.3,