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rs587777801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAG;TAG) 0 common in clinvar
Make rs587777801(-;-)
Make rs587777801(-;TAG)
ReferenceGRCh38 38.1/142
Chromosome4
Position122742227
GeneBBS12
is asnp
is mentioned by
dbSNPrs587777801
ebirs587777801
HLIrs587777801
Exacrs587777801
Varsomers587777801
Maprs587777801
PheGenIrs587777801
hapmaprs587777801
1000 genomesrs587777801
hgdprs587777801
ensemblrs587777801
gopubmedrs587777801
geneviewrs587777801
scholarrs587777801
googlers587777801
pharmgkbrs587777801
gwascentralrs587777801
openSNPrs587777801
23andMers587777801
23andMe allrs587777801
SNP Nexus

SNPshotrs587777801
SNPdbers587777801
MSV3drs587777801
GWAS Ctlgrs587777801
Max Magnitude0
ClinVar
Risk rs587777801(;)
Alt rs587777801(;)
Reference rs587777801(TAG;TAG)
Significance Pathogenic
Disease Bardet-Biedl syndrome 12
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome 12
Reversed 0
HGVS NC_000004.11:g.123663382_123663384delTAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001207.3,