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rs724160030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724160030(-;-)
Make rs724160030(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position116579791
GeneIGSF3
is asnp
is mentioned by
dbSNPrs724160030
dbSNP (classic)rs724160030
ClinGenrs724160030
ebirs724160030
HLIrs724160030
Exacrs724160030
Gnomadrs724160030
Varsomers724160030
LitVarrs724160030
Maprs724160030
PheGenIrs724160030
Biobankrs724160030
1000 genomesrs724160030
hgdprs724160030
ensemblrs724160030
geneviewrs724160030
scholarrs724160030
googlers724160030
pharmgkbrs724160030
gwascentralrs724160030
openSNPrs724160030
23andMers724160030
SNPshotrs724160030
SNPdbers724160030
MSV3drs724160030
GWAS Ctlgrs724160030
Max Magnitude0
ClinVar
Risk rs724160030(-;-)
Alt rs724160030(-;-)
Reference Rs724160030(C;C)
Significance Pathogenic
Disease Lacrimal duct defect
Variation info
Gene IGSF3
CLNDBN Lacrimal duct defect
Reversed 1
HGVS NC_000001.10:g.117122413delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000149880.4,