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rs587777482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777482(C;T)
Make rs587777482(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position10547590
GeneEMP2
is asnp
is mentioned by
dbSNPrs587777482
dbSNP (classic)rs587777482
ClinGenrs587777482
ebirs587777482
HLIrs587777482
Exacrs587777482
Gnomadrs587777482
Varsomers587777482
LitVarrs587777482
Maprs587777482
PheGenIrs587777482
Biobankrs587777482
1000 genomesrs587777482
hgdprs587777482
ensemblrs587777482
geneviewrs587777482
scholarrs587777482
googlers587777482
pharmgkbrs587777482
gwascentralrs587777482
openSNPrs587777482
23andMers587777482
SNPshotrs587777482
SNPdbers587777482
MSV3drs587777482
GWAS Ctlgrs587777482
Max Magnitude0
ClinVar
Risk rs587777482(T;T)
Alt rs587777482(T;T)
Reference Rs587777482(C;C)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene EMP2
CLNDBN Nephrotic syndrome, type 10
Reversed 0
HGVS NC_000016.9:g.10641447C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000128432.4,