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rs1057517143

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517143(C;T)
Make rs1057517143(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66523496
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057517143
dbSNP (old)rs1057517143
ClinGenrs1057517143
ebirs1057517143
HLIrs1057517143
Exacrs1057517143
Gnomadrs1057517143
Varsomers1057517143
Maprs1057517143
PheGenIrs1057517143
Biobankrs1057517143
1000 genomesrs1057517143
hgdprs1057517143
ensemblrs1057517143
gopubmedrs1057517143
geneviewrs1057517143
scholarrs1057517143
googlers1057517143
pharmgkbrs1057517143
gwascentralrs1057517143
openSNPrs1057517143
23andMers1057517143
23andMe allrs1057517143
SNPshotrs1057517143
SNPdbers1057517143
MSV3drs1057517143
GWAS Ctlgrs1057517143
Max Magnitude0
ClinVar
Risk rs1057517143(T;T)
Alt rs1057517143(T;T)
Reference Rs1057517143(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66290967C>T
CLNSRC
CLNACC RCV000410229.1,