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rs1057517184

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517184(C;T)
Make rs1057517184(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76347411
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057517184
dbSNP (old)rs1057517184
ClinGenrs1057517184
ebirs1057517184
HLIrs1057517184
Exacrs1057517184
Gnomadrs1057517184
Varsomers1057517184
Maprs1057517184
PheGenIrs1057517184
Biobankrs1057517184
1000 genomesrs1057517184
hgdprs1057517184
ensemblrs1057517184
gopubmedrs1057517184
geneviewrs1057517184
scholarrs1057517184
googlers1057517184
pharmgkbrs1057517184
gwascentralrs1057517184
openSNPrs1057517184
23andMers1057517184
23andMe allrs1057517184
SNPshotrs1057517184
SNPdbers1057517184
MSV3drs1057517184
GWAS Ctlgrs1057517184
Max Magnitude0
ClinVar
Risk rs1057517184(T;T)
Alt rs1057517184(T;T)
Reference Rs1057517184(C;C)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76741191G>A
CLNSRC
CLNACC RCV000411485.1,