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rs398122983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGGCCCT;GGGCCCT) 0 common in clinvar
Make rs398122983(-;-)
Make rs398122983(-;GGGCCCT)
ReferenceGRCh38 38.1/142
Chromosome19
Position40692308
GeneADCK4, NUMBL
is asnp
is mentioned by
dbSNPrs398122983
ebirs398122983
HLIrs398122983
Exacrs398122983
Varsomers398122983
Maprs398122983
PheGenIrs398122983
hapmaprs398122983
1000 genomesrs398122983
hgdprs398122983
ensemblrs398122983
gopubmedrs398122983
geneviewrs398122983
scholarrs398122983
googlers398122983
pharmgkbrs398122983
gwascentralrs398122983
openSNPrs398122983
23andMers398122983
23andMe allrs398122983
SNP Nexus

SNPshotrs398122983
SNPdbers398122983
MSV3drs398122983
GWAS Ctlgrs398122983
Max Magnitude0
ClinVar
Risk rs398122983(;)
Alt rs398122983(;)
Reference rs398122983(GGGCCCT;GGGCCCT)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUMBL ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41198213_41198219delAGGGCCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000077759.3,