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rs587777802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587777802(-;-)
Make rs587777802(-;GA)
Make rs587777802(GA;GA)
ReferenceGRCh38 38.1/142
Chromosome4
Position122743375
GeneBBS12
is asnp
is mentioned by
dbSNPrs587777802
ebirs587777802
HLIrs587777802
Exacrs587777802
Varsomers587777802
Maprs587777802
PheGenIrs587777802
hapmaprs587777802
1000 genomesrs587777802
hgdprs587777802
ensemblrs587777802
gopubmedrs587777802
geneviewrs587777802
scholarrs587777802
googlers587777802
pharmgkbrs587777802
gwascentralrs587777802
openSNPrs587777802
23andMers587777802
23andMe allrs587777802
SNP Nexus

SNPshotrs587777802
SNPdbers587777802
MSV3drs587777802
GWAS Ctlgrs587777802
Max Magnitude0
ClinVar
Risk rs587777802(;)
Alt rs587777802(;)
Reference rs587777802(AG;AG)
Significance Pathogenic
Disease Bardet-Biedl syndrome 12
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome 12
Reversed 0
HGVS NC_000004.11:g.123664530_123664531delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001208.3,