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rs1057517007

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517007(-;-)
Make rs1057517007(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position66514428
GeneBBS1
is asnp
is mentioned by
dbSNPrs1057517007
dbSNP (old)rs1057517007
ClinGenrs1057517007
ebirs1057517007
HLIrs1057517007
Exacrs1057517007
Gnomadrs1057517007
Varsomers1057517007
Maprs1057517007
PheGenIrs1057517007
Biobankrs1057517007
1000 genomesrs1057517007
hgdprs1057517007
ensemblrs1057517007
gopubmedrs1057517007
geneviewrs1057517007
scholarrs1057517007
googlers1057517007
pharmgkbrs1057517007
gwascentralrs1057517007
openSNPrs1057517007
23andMers1057517007
23andMe allrs1057517007
SNPshotrs1057517007
SNPdbers1057517007
MSV3drs1057517007
GWAS Ctlgrs1057517007
Max Magnitude0
ClinVar
Risk rs1057517007(-;-)
Alt rs1057517007(-;-)
Reference Rs1057517007(C;C)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS1
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000011.9:g.66281899delC
CLNSRC
CLNACC RCV000410530.1,