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rs587777803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587777803(-;-)
Make rs587777803(-;TT)
ReferenceGRCh38 38.1/142
Chromosome4
Position122743007
GeneBBS12
is asnp
is mentioned by
dbSNPrs587777803
ebirs587777803
HLIrs587777803
Exacrs587777803
Varsomers587777803
Maprs587777803
PheGenIrs587777803
hapmaprs587777803
1000 genomesrs587777803
hgdprs587777803
ensemblrs587777803
gopubmedrs587777803
geneviewrs587777803
scholarrs587777803
googlers587777803
pharmgkbrs587777803
gwascentralrs587777803
openSNPrs587777803
23andMers587777803
23andMe allrs587777803
SNP Nexus

SNPshotrs587777803
SNPdbers587777803
MSV3drs587777803
GWAS Ctlgrs587777803
Max Magnitude0
ClinVar
Risk rs587777803(;)
Alt rs587777803(;)
Reference rs587777803(TT;TT)
Significance Pathogenic
Disease Bardet-Biedl syndrome 12
Variation info
Gene BBS12
CLNDBN Bardet-Biedl syndrome 12
Reversed 0
HGVS NC_000004.11:g.123664162_123664163delTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001210.3,