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rs1057517135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517135(-;T)
Make rs1057517135(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66531690
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057517135
dbSNP (old)rs1057517135
ClinGenrs1057517135
ebirs1057517135
HLIrs1057517135
Exacrs1057517135
Gnomadrs1057517135
Varsomers1057517135
Maprs1057517135
PheGenIrs1057517135
Biobankrs1057517135
1000 genomesrs1057517135
hgdprs1057517135
ensemblrs1057517135
gopubmedrs1057517135
geneviewrs1057517135
scholarrs1057517135
googlers1057517135
pharmgkbrs1057517135
gwascentralrs1057517135
openSNPrs1057517135
23andMers1057517135
23andMe allrs1057517135
SNPshotrs1057517135
SNPdbers1057517135
MSV3drs1057517135
GWAS Ctlgrs1057517135
Max Magnitude0
ClinVar
Risk rs1057517135(T;T)
Alt rs1057517135(T;T)
Reference Rs1057517135(-;-)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66299161dupT
CLNSRC
CLNACC RCV000411939.1,