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rs483353013

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483353013(A;G)
Make rs483353013(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position57175646
GeneLRP1
is asnp
is mentioned by
dbSNPrs483353013
dbSNP (classic)rs483353013
ClinGenrs483353013
ebirs483353013
HLIrs483353013
Exacrs483353013
Gnomadrs483353013
Varsomers483353013
LitVarrs483353013
Maprs483353013
PheGenIrs483353013
Biobankrs483353013
1000 genomesrs483353013
hgdprs483353013
ensemblrs483353013
geneviewrs483353013
scholarrs483353013
googlers483353013
pharmgkbrs483353013
gwascentralrs483353013
openSNPrs483353013
23andMers483353013
SNPshotrs483353013
SNPdbers483353013
MSV3drs483353013
GWAS Ctlgrs483353013
Max Magnitude0
ClinVar
Risk rs483353013(C;C) rs483353013(G;G)
Alt rs483353013(C;C) rs483353013(G;G)
Reference Rs483353013(A;A)
Significance Pathogenic
Disease Atrophoderma vermiculatum Keratosis pilaris
Variation info
Gene LRP1
CLNDBN Atrophoderma vermiculatum Keratosis pilaris
Reversed 0
HGVS NC_000012.11:g.57569429A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000119304.1, RCV000258847.1,