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rs431825171

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAGC;AAAGC) 0 common in clinvar
Make rs431825171(-;-)
Make rs431825171(-;AAAGC)
ReferenceGRCh38 38.1/141
Chromosome3
Position45833100
GeneLZTFL1
is asnp
is mentioned by
dbSNPrs431825171
dbSNP (classic)rs431825171
ClinGenrs431825171
ebirs431825171
HLIrs431825171
Exacrs431825171
Gnomadrs431825171
Varsomers431825171
LitVarrs431825171
Maprs431825171
PheGenIrs431825171
Biobankrs431825171
1000 genomesrs431825171
hgdprs431825171
ensemblrs431825171
geneviewrs431825171
scholarrs431825171
googlers431825171
pharmgkbrs431825171
gwascentralrs431825171
openSNPrs431825171
23andMers431825171
SNPshotrs431825171
SNPdbers431825171
MSV3drs431825171
GWAS Ctlgrs431825171
Max Magnitude0
ClinVar
Risk rs431825171(-;-)
Alt rs431825171(-;-)
Reference Rs431825171(AAAGC;AAAGC)
Significance Pathogenic
Disease Bardet-Biedl syndrome 17
Variation info
Gene LZTFL1
CLNDBN Bardet-Biedl syndrome 17
Reversed 1
HGVS NC_000003.11:g.45874592_45874596delGCTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000032989.7,