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rs587777824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777824(-;-)
Make rs587777824(-;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position56502673
GeneBBS2
is asnp
is mentioned by
dbSNPrs587777824
ebirs587777824
HLIrs587777824
Exacrs587777824
Varsomers587777824
Maprs587777824
PheGenIrs587777824
hapmaprs587777824
1000 genomesrs587777824
hgdprs587777824
ensemblrs587777824
gopubmedrs587777824
geneviewrs587777824
scholarrs587777824
googlers587777824
pharmgkbrs587777824
gwascentralrs587777824
openSNPrs587777824
23andMers587777824
23andMe allrs587777824
SNP Nexus

SNPshotrs587777824
SNPdbers587777824
MSV3drs587777824
GWAS Ctlgrs587777824
Max Magnitude0
ClinVar
Risk rs587777824(;)
Alt rs587777824(;)
Reference rs587777824(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 0
HGVS NC_000016.9:g.56536585delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004830.4,