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

rs863224530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs863224530(-;-)
Make rs863224530(-;AC)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position121859130
GeneBBS7
is asnp
is mentioned by
dbSNPrs863224530
dbSNP (classic)rs863224530
ClinGenrs863224530
ebirs863224530
HLIrs863224530
Exacrs863224530
Gnomadrs863224530
Varsomers863224530
LitVarrs863224530
Maprs863224530
PheGenIrs863224530
Biobankrs863224530
1000 genomesrs863224530
hgdprs863224530
ensemblrs863224530
geneviewrs863224530
scholarrs863224530
googlers863224530
pharmgkbrs863224530
gwascentralrs863224530
openSNPrs863224530
23andMers863224530
SNPshotrs863224530
SNPdbers863224530
MSV3drs863224530
GWAS Ctlgrs863224530
Max Magnitude0
ClinVar
Risk rs863224530(-;-)
Alt rs863224530(-;-)
Reference Rs863224530(AC;AC)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS7
CLNDBN Bardet-Biedl syndrome
Reversed 1
HGVS NC_000004.11:g.122780285_122780286delGT
CLNSRC
CLNACC RCV000200204.1,