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rs869312984

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312984(C;C)
Make rs869312984(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position135648501
GeneNUP205
is asnp
is mentioned by
dbSNPrs869312984
ebirs869312984
HLIrs869312984
Exacrs869312984
Varsomers869312984
Maprs869312984
PheGenIrs869312984
hapmaprs869312984
1000 genomesrs869312984
hgdprs869312984
ensemblrs869312984
gopubmedrs869312984
geneviewrs869312984
scholarrs869312984
googlers869312984
pharmgkbrs869312984
gwascentralrs869312984
openSNPrs869312984
23andMers869312984
23andMe allrs869312984
SNP Nexus

SNPshotrs869312984
SNPdbers869312984
MSV3drs869312984
GWAS Ctlgrs869312984
Max Magnitude0
ClinVar
Risk rs869312984(C;C)
Alt rs869312984(C;C)
Reference rs869312984(T;T)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUP205
CLNDBN Nephrotic syndrome, type 13
Reversed 0
HGVS NC_000007.13:g.135333249T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210736.1,