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rs869025208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAATGGACAAGGT;AAATGGACAAGGT) 0 common in clinvar
(GAAATGGACAAGGT;GAAATGGACAAGGT) 0 common in clinvar
Make rs869025208(-;-)
Make rs869025208(-;AAATGGACAAGGT)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position33146354
GeneBBS9
is asnp
is mentioned by
dbSNPrs869025208
dbSNP (old)rs869025208
ClinGenrs869025208
ebirs869025208
HLIrs869025208
Exacrs869025208
Gnomadrs869025208
Varsomers869025208
Maprs869025208
PheGenIrs869025208
Biobankrs869025208
1000 genomesrs869025208
hgdprs869025208
ensemblrs869025208
gopubmedrs869025208
geneviewrs869025208
scholarrs869025208
googlers869025208
pharmgkbrs869025208
gwascentralrs869025208
openSNPrs869025208
23andMers869025208
23andMe allrs869025208
SNP Nexus

SNPshotrs869025208
SNPdbers869025208
MSV3drs869025208
GWAS Ctlgrs869025208
Max Magnitude0
ClinVar
Risk rs869025208(-;-)
Alt rs869025208(-;-)
Reference Rs869025208(AAATGGACAAGGT;AAATGGACAAGGT)
Significance Pathogenic
Disease Bardet-Biedl syndrome 9
Variation info
Gene BBS9
CLNDBN Bardet-Biedl syndrome 9
Reversed 0
HGVS NC_000007.13:g.33185966_33185978delAAATGGACAAGGT
CLNSRC
CLNACC RCV000207745.1,