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rs1060500996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTATT;TTATT) 0 common in clinvar
Make rs1060500996(-;-)
Make rs1060500996(-;TTATT)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76347724
GeneBBS10
is asnp
is mentioned by
dbSNPrs1060500996
dbSNP (classic)rs1060500996
ClinGenrs1060500996
ebirs1060500996
HLIrs1060500996
Exacrs1060500996
Gnomadrs1060500996
Varsomers1060500996
LitVarrs1060500996
Maprs1060500996
PheGenIrs1060500996
Biobankrs1060500996
1000 genomesrs1060500996
hgdprs1060500996
ensemblrs1060500996
geneviewrs1060500996
scholarrs1060500996
googlers1060500996
pharmgkbrs1060500996
gwascentralrs1060500996
openSNPrs1060500996
23andMers1060500996
23andMe allrs1060500996
SNPshotrs1060500996
SNPdbers1060500996
MSV3drs1060500996
GWAS Ctlgrs1060500996
Max Magnitude0
ClinVar
Risk rs1060500996(-;-)
Alt rs1060500996(-;-)
Reference Rs1060500996(TTATT;TTATT)
Significance Pathogenic
Disease Bardet-Biedl syndrome
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome
Reversed 1
HGVS NC_000012.11:g.76741504_76741508delAATAA
CLNSRC
CLNACC RCV000466285.1,