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rs1057519347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519347(A;A)
Make rs1057519347(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position40692240
GeneCOQ8B, NUMBL
is asnp
is mentioned by
dbSNPrs1057519347
dbSNP (old)rs1057519347
ClinGenrs1057519347
ebirs1057519347
HLIrs1057519347
Exacrs1057519347
Gnomadrs1057519347
Varsomers1057519347
Maprs1057519347
PheGenIrs1057519347
Biobankrs1057519347
1000 genomesrs1057519347
hgdprs1057519347
ensemblrs1057519347
gopubmedrs1057519347
geneviewrs1057519347
scholarrs1057519347
googlers1057519347
pharmgkbrs1057519347
gwascentralrs1057519347
openSNPrs1057519347
23andMers1057519347
23andMe allrs1057519347
SNPshotrs1057519347
SNPdbers1057519347
MSV3drs1057519347
GWAS Ctlgrs1057519347
Max Magnitude0
ClinVar
Risk rs1057519347(A;A)
Alt rs1057519347(A;A)
Reference Rs1057519347(G;G)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene NUMBL COQ8B ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41198145C>T
CLNSRC
CLNACC RCV000416385.1,