Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTT;TCTT) 0 common in clinvar
Make rs587777812(-;-)
Make rs587777812(-;TCTT)
ReferenceGRCh38 38.1/142
Chromosome4
Position121854710
GeneBBS7
is asnp
is mentioned by
dbSNPrs587777812
ebirs587777812
HLIrs587777812
Exacrs587777812
Varsomers587777812
Maprs587777812
PheGenIrs587777812
hapmaprs587777812
1000 genomesrs587777812
hgdprs587777812
ensemblrs587777812
gopubmedrs587777812
geneviewrs587777812
scholarrs587777812
googlers587777812
pharmgkbrs587777812
gwascentralrs587777812
openSNPrs587777812
23andMers587777812
23andMe allrs587777812
SNP Nexus

SNPshotrs587777812
SNPdbers587777812
MSV3drs587777812
GWAS Ctlgrs587777812
Max Magnitude0
ClinVar
Risk rs587777812(;)
Alt rs587777812(;)
Reference rs587777812(TCTT;TCTT)
Significance Pathogenic
Disease Bardet-Biedl syndrome 7
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome 7
Reversed 0
HGVS NC_000004.11:g.122775865_122775868delTCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003153.3,