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rs1057516753

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516753(A;A)
Make rs1057516753(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76347607
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057516753
dbSNP (old)rs1057516753
ClinGenrs1057516753
ebirs1057516753
HLIrs1057516753
Exacrs1057516753
Gnomadrs1057516753
Varsomers1057516753
Maprs1057516753
PheGenIrs1057516753
Biobankrs1057516753
1000 genomesrs1057516753
hgdprs1057516753
ensemblrs1057516753
gopubmedrs1057516753
geneviewrs1057516753
scholarrs1057516753
googlers1057516753
pharmgkbrs1057516753
gwascentralrs1057516753
openSNPrs1057516753
23andMers1057516753
23andMe allrs1057516753
SNPshotrs1057516753
SNPdbers1057516753
MSV3drs1057516753
GWAS Ctlgrs1057516753
Max Magnitude0
ClinVar
Risk rs1057516753(A;A)
Alt rs1057516753(A;A)
Reference Rs1057516753(G;G)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76741387C>T
CLNSRC
CLNACC RCV000409088.1,