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rs515726134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs515726134(A;C)
Make rs515726134(C;C)
ReferenceGRCh38 38.1/142
Chromosome10
Position110900466
GeneBBIP1, PDCD4
is asnp
is mentioned by
dbSNPrs515726134
dbSNP (classic)rs515726134
ClinGenrs515726134
ebirs515726134
HLIrs515726134
Exacrs515726134
Gnomadrs515726134
Varsomers515726134
LitVarrs515726134
Maprs515726134
PheGenIrs515726134
Biobankrs515726134
1000 genomesrs515726134
hgdprs515726134
ensemblrs515726134
geneviewrs515726134
scholarrs515726134
googlers515726134
pharmgkbrs515726134
gwascentralrs515726134
openSNPrs515726134
23andMers515726134
SNPshotrs515726134
SNPdbers515726134
MSV3drs515726134
GWAS Ctlgrs515726134
Max Magnitude0
ClinVar
Risk rs515726134(C;C)
Alt rs515726134(C;C)
Reference Rs515726134(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome Bardet-Biedl syndrome 18
Variation info
Gene BBIP1 PDCD4
CLNDBN Bardet-Biedl syndrome Bardet-Biedl syndrome 18
Reversed 0
HGVS NC_000010.10:g.112660224A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000114318.2, RCV000114434.4,