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rs869025564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869025564(-;C)
Make rs869025564(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position150510996
GeneECM1
is asnp
is mentioned by
dbSNPrs869025564
dbSNP (classic)rs869025564
ClinGenrs869025564
ebirs869025564
HLIrs869025564
Exacrs869025564
Gnomadrs869025564
Varsomers869025564
LitVarrs869025564
Maprs869025564
PheGenIrs869025564
Biobankrs869025564
1000 genomesrs869025564
hgdprs869025564
ensemblrs869025564
geneviewrs869025564
scholarrs869025564
googlers869025564
pharmgkbrs869025564
gwascentralrs869025564
openSNPrs869025564
23andMers869025564
SNPshotrs869025564
SNPdbers869025564
MSV3drs869025564
GWAS Ctlgrs869025564
Max Magnitude0
ClinVar
Risk rs869025564(C;C)
Alt rs869025564(C;C)
Reference Rs869025564(-;-)
Significance Pathogenic
Disease Lipid proteinosis
Variation info
Gene ECM1
CLNDBN Lipid proteinosis
Reversed 0
HGVS NC_000001.10:g.150483472dupC
CLNSRC
CLNACC RCV000208556.1,