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rs864321687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGAG;AAGAG) 0 common in clinvar
(AGAAG;AGAAG) 0 common in clinvar
Make rs864321687(-;-)
Make rs864321687(-;AAGAG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position68715736
GeneNUP107
is asnp
is mentioned by
dbSNPrs864321687
dbSNP (old)rs864321687
ClinGenrs864321687
ebirs864321687
HLIrs864321687
Exacrs864321687
Gnomadrs864321687
Varsomers864321687
Maprs864321687
PheGenIrs864321687
Biobankrs864321687
1000 genomesrs864321687
hgdprs864321687
ensemblrs864321687
gopubmedrs864321687
geneviewrs864321687
scholarrs864321687
googlers864321687
pharmgkbrs864321687
gwascentralrs864321687
openSNPrs864321687
23andMers864321687
23andMe allrs864321687
SNP Nexus

SNPshotrs864321687
SNPdbers864321687
MSV3drs864321687
GWAS Ctlgrs864321687
Max Magnitude0
ClinVar
Risk rs864321687(-;-) Rs864321687(AGAAG;AGAAG)
Alt rs864321687(-;-) Rs864321687(AGAAG;AGAAG)
Reference Rs864321687(AAGAG;AAGAG)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUP107
CLNDBN Nephrotic syndrome, type 11
Reversed 0
HGVS NC_000012.11:g.69109516_69109520delAAGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000203517.1,