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rs587777807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGC;TGC) 0 common in clinvar
Make rs587777807(-;-)
Make rs587777807(-;TGC)
ReferenceGRCh38 38.1/142
Chromosome14
Position88870200
GeneTTC8
is asnp
is mentioned by
dbSNPrs587777807
ebirs587777807
HLIrs587777807
Exacrs587777807
Varsomers587777807
Maprs587777807
PheGenIrs587777807
hapmaprs587777807
1000 genomesrs587777807
hgdprs587777807
ensemblrs587777807
gopubmedrs587777807
geneviewrs587777807
scholarrs587777807
googlers587777807
pharmgkbrs587777807
gwascentralrs587777807
openSNPrs587777807
23andMers587777807
23andMe allrs587777807
SNP Nexus

SNPshotrs587777807
SNPdbers587777807
MSV3drs587777807
GWAS Ctlgrs587777807
Max Magnitude0
ClinVar
Risk rs587777807(;)
Alt rs587777807(;)
Reference rs587777807(TGC;TGC)
Significance Pathogenic
Disease Bardet-Biedl syndrome 8
Variation info
Gene TTC8
CLNDBN Bardet-Biedl syndrome 8
Reversed 0
HGVS NC_000014.8:g.89336544_89336546delTGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002638.3,