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rs1057516427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516427(A;A)
Make rs1057516427(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66523480
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057516427
dbSNP (old)rs1057516427
ClinGenrs1057516427
ebirs1057516427
HLIrs1057516427
Exacrs1057516427
Gnomadrs1057516427
Varsomers1057516427
LitVarrs1057516427
Maprs1057516427
PheGenIrs1057516427
Biobankrs1057516427
1000 genomesrs1057516427
hgdprs1057516427
ensemblrs1057516427
gopubmedrs1057516427
geneviewrs1057516427
scholarrs1057516427
googlers1057516427
pharmgkbrs1057516427
gwascentralrs1057516427
openSNPrs1057516427
23andMers1057516427
23andMe allrs1057516427
SNPshotrs1057516427
SNPdbers1057516427
MSV3drs1057516427
GWAS Ctlgrs1057516427
Max Magnitude0
ClinVar
Risk rs1057516427(A;A)
Alt rs1057516427(A;A)
Reference Rs1057516427(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.66290951C>A
CLNSRC
CLNACC RCV000411176.1,