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rs1057516623

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516623(-;-)
Make rs1057516623(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position76346929
GeneBBS10
is asnp
is mentioned by
dbSNPrs1057516623
dbSNP (old)rs1057516623
ClinGenrs1057516623
ebirs1057516623
HLIrs1057516623
Exacrs1057516623
Gnomadrs1057516623
Varsomers1057516623
Maprs1057516623
PheGenIrs1057516623
Biobankrs1057516623
1000 genomesrs1057516623
hgdprs1057516623
ensemblrs1057516623
gopubmedrs1057516623
geneviewrs1057516623
scholarrs1057516623
googlers1057516623
pharmgkbrs1057516623
gwascentralrs1057516623
openSNPrs1057516623
23andMers1057516623
23andMe allrs1057516623
SNPshotrs1057516623
SNPdbers1057516623
MSV3drs1057516623
GWAS Ctlgrs1057516623
Max Magnitude0
ClinVar
Risk rs1057516623(-;-)
Alt rs1057516623(-;-)
Reference Rs1057516623(A;A)
Significance Probable-Pathogenic
Disease Bardet-Biedl syndrome 10
Variation info
Gene BBS10
CLNDBN Bardet-Biedl syndrome 10
Reversed 1
HGVS NC_000012.11:g.76740709delT
CLNSRC
CLNACC RCV000409349.1,