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rs1060503690

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503690(G;T)
Make rs1060503690(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66526708
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1060503690
dbSNP (old)rs1060503690
ClinGenrs1060503690
ebirs1060503690
HLIrs1060503690
Exacrs1060503690
Gnomadrs1060503690
Varsomers1060503690
Maprs1060503690
PheGenIrs1060503690
Biobankrs1060503690
1000 genomesrs1060503690
hgdprs1060503690
ensemblrs1060503690
gopubmedrs1060503690
geneviewrs1060503690
scholarrs1060503690
googlers1060503690
pharmgkbrs1060503690
gwascentralrs1060503690
openSNPrs1060503690
23andMers1060503690
23andMe allrs1060503690
SNPshotrs1060503690
SNPdbers1060503690
MSV3drs1060503690
GWAS Ctlgrs1060503690
Max Magnitude0
ClinVar
Risk rs1060503690(T;T)
Alt rs1060503690(T;T)
Reference Rs1060503690(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66294179G>T
CLNSRC
CLNACC RCV000466299.1,