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rs1057516661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516661(A;A)
Make rs1057516661(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66523723
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs1057516661
dbSNP (classic)rs1057516661
ClinGenrs1057516661
ebirs1057516661
HLIrs1057516661
Exacrs1057516661
Gnomadrs1057516661
Varsomers1057516661
LitVarrs1057516661
Maprs1057516661
PheGenIrs1057516661
Biobankrs1057516661
1000 genomesrs1057516661
hgdprs1057516661
ensemblrs1057516661
geneviewrs1057516661
scholarrs1057516661
googlers1057516661
pharmgkbrs1057516661
gwascentralrs1057516661
openSNPrs1057516661
23andMers1057516661
23andMe allrs1057516661
SNPshotrs1057516661
SNPdbers1057516661
MSV3drs1057516661
GWAS Ctlgrs1057516661
Max Magnitude0
ClinVar
Risk rs1057516661(A;A)
Alt rs1057516661(A;A)
Reference Rs1057516661(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.66291194G>A
CLNSRC
CLNACC RCV000410767.1,