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rs768443448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768443448(C;T)
Make rs768443448(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position66526753
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs768443448
dbSNP (classic)rs768443448
ClinGenrs768443448
ebirs768443448
HLIrs768443448
Exacrs768443448
Gnomadrs768443448
Varsomers768443448
LitVarrs768443448
Maprs768443448
PheGenIrs768443448
Biobankrs768443448
1000 genomesrs768443448
hgdprs768443448
ensemblrs768443448
geneviewrs768443448
scholarrs768443448
googlers768443448
pharmgkbrs768443448
gwascentralrs768443448
openSNPrs768443448
23andMers768443448
SNPshotrs768443448
SNPdbers768443448
MSV3drs768443448
GWAS Ctlgrs768443448
Max Magnitude0
ClinVar
Risk rs768443448(G;G) rs768443448(T;T)
Alt rs768443448(G;G) rs768443448(T;T)
Reference Rs768443448(C;C)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66294224C>T
CLNSRC
CLNACC RCV000169362.1,