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rs869025567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs869025567(GC;TT)
Make rs869025567(TT;TT)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position150509553
GeneECM1
is asnp
is mentioned by
dbSNPrs869025567
dbSNP (old)rs869025567
ClinGenrs869025567
ebirs869025567
HLIrs869025567
Exacrs869025567
Gnomadrs869025567
Varsomers869025567
Maprs869025567
PheGenIrs869025567
Biobankrs869025567
1000 genomesrs869025567
hgdprs869025567
ensemblrs869025567
gopubmedrs869025567
geneviewrs869025567
scholarrs869025567
googlers869025567
pharmgkbrs869025567
gwascentralrs869025567
openSNPrs869025567
23andMers869025567
23andMe allrs869025567
SNP Nexus

SNPshotrs869025567
SNPdbers869025567
MSV3drs869025567
GWAS Ctlgrs869025567
Max Magnitude0
ClinVar
Risk rs869025567(TT;TT)
Alt rs869025567(TT;TT)
Reference Rs869025567(GC;GC)
Significance Pathogenic
Disease Lipid proteinosis
Variation info
Gene ECM1
CLNDBN Lipid proteinosis
Reversed 0
HGVS NC_000001.10:g.150482029_150482030delGCinsTT
CLNSRC
CLNACC RCV000208569.1,