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rs515726136

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726136(A;A)
Make rs515726136(A;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position45827459
GeneLZTFL1
is asnp
is mentioned by
dbSNPrs515726136
ebirs515726136
HLIrs515726136
Exacrs515726136
Varsomers515726136
Maprs515726136
PheGenIrs515726136
hapmaprs515726136
1000 genomesrs515726136
hgdprs515726136
ensemblrs515726136
gopubmedrs515726136
geneviewrs515726136
scholarrs515726136
googlers515726136
pharmgkbrs515726136
gwascentralrs515726136
openSNPrs515726136
23andMers515726136
23andMe allrs515726136
SNP Nexus

SNPshotrs515726136
SNPdbers515726136
MSV3drs515726136
GWAS Ctlgrs515726136
Max Magnitude0
ClinVar
Risk rs515726136(A;A)
Alt rs515726136(A;A)
Reference rs515726136(C;C)
Significance Pathogenic
Disease Bardet-Biedl syndrome Bardet-Biedl syndrome 17
Variation info
Gene LZTFL1
CLNDBN Bardet-Biedl syndrome Bardet-Biedl syndrome 17
Reversed 0
HGVS NC_000003.11:g.45868951C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114320.2, RCV000133553.3,