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rs1057516330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516330(-;-)
Make rs1057516330(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66521332
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057516330
dbSNP (classic)rs1057516330
ClinGenrs1057516330
ebirs1057516330
HLIrs1057516330
Exacrs1057516330
Gnomadrs1057516330
Varsomers1057516330
LitVarrs1057516330
Maprs1057516330
PheGenIrs1057516330
Biobankrs1057516330
1000 genomesrs1057516330
hgdprs1057516330
ensemblrs1057516330
geneviewrs1057516330
scholarrs1057516330
googlers1057516330
pharmgkbrs1057516330
gwascentralrs1057516330
openSNPrs1057516330
23andMers1057516330
23andMe allrs1057516330
SNPshotrs1057516330
SNPdbers1057516330
MSV3drs1057516330
GWAS Ctlgrs1057516330
Max Magnitude0
ClinVar
Risk rs1057516330(-;-)
Alt rs1057516330(-;-)
Reference Rs1057516330(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66288803delG
CLNSRC
CLNACC RCV000409955.1,