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rs121909114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909114(C;T)
Make rs121909114(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position150511784
GeneECM1
is asnp
is mentioned by
dbSNPrs121909114
ebirs121909114
HLIrs121909114
Exacrs121909114
Varsomers121909114
Maprs121909114
PheGenIrs121909114
hapmaprs121909114
1000 genomesrs121909114
hgdprs121909114
ensemblrs121909114
gopubmedrs121909114
geneviewrs121909114
scholarrs121909114
googlers121909114
pharmgkbrs121909114
gwascentralrs121909114
openSNPrs121909114
23andMers121909114
23andMe allrs121909114
SNP Nexus

SNPshotrs121909114
SNPdbers121909114
MSV3drs121909114
GWAS Ctlgrs121909114
Max Magnitude0
OMIM602201
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909114(T;T)
Alt rs121909114(T;T)
Reference rs121909114(C;C)
Significance Pathogenic
Disease Lipid proteinosis
Variation info
Gene ECM1
CLNDBN Lipid proteinosis
Reversed 0
HGVS NC_000001.10:g.150484260C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007898.2,