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rs1057517332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517332(A;G)
Make rs1057517332(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66523454
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057517332
dbSNP (classic)rs1057517332
ClinGenrs1057517332
ebirs1057517332
HLIrs1057517332
Exacrs1057517332
Gnomadrs1057517332
Varsomers1057517332
LitVarrs1057517332
Maprs1057517332
PheGenIrs1057517332
Biobankrs1057517332
1000 genomesrs1057517332
hgdprs1057517332
ensemblrs1057517332
geneviewrs1057517332
scholarrs1057517332
googlers1057517332
pharmgkbrs1057517332
gwascentralrs1057517332
openSNPrs1057517332
23andMers1057517332
23andMe allrs1057517332
SNPshotrs1057517332
SNPdbers1057517332
MSV3drs1057517332
GWAS Ctlgrs1057517332
Max Magnitude0
ClinVar
Risk rs1057517332(G;G)
Alt rs1057517332(G;G)
Reference Rs1057517332(A;A)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66290925A>G
CLNSRC
CLNACC RCV000410589.1,