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rs1060503692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060503692(A;A)
Make rs1060503692(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72727990
GeneBBS4
is asnp
is mentioned by
dbSNPrs1060503692
dbSNP (old)rs1060503692
ClinGenrs1060503692
ebirs1060503692
HLIrs1060503692
Exacrs1060503692
Gnomadrs1060503692
Varsomers1060503692
LitVarrs1060503692
Maprs1060503692
PheGenIrs1060503692
Biobankrs1060503692
1000 genomesrs1060503692
hgdprs1060503692
ensemblrs1060503692
gopubmedrs1060503692
geneviewrs1060503692
scholarrs1060503692
googlers1060503692
pharmgkbrs1060503692
gwascentralrs1060503692
openSNPrs1060503692
23andMers1060503692
23andMe allrs1060503692
SNPshotrs1060503692
SNPdbers1060503692
MSV3drs1060503692
GWAS Ctlgrs1060503692
Max Magnitude0
ClinVar
Risk rs1060503692(A;A)
Alt rs1060503692(A;A)
Reference Rs1060503692(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS4
CLNDBN Bardet-Biedl syndrome
Reversed 0
HGVS NC_000015.9:g.73020331T>A
CLNSRC
CLNACC RCV000471858.1,