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rs1057519346

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519346(-;GAC)
Make rs1057519346(GAC;GAC)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position40700388
GeneCOQ8B
is asnp
is mentioned by
dbSNPrs1057519346
dbSNP (old)rs1057519346
ClinGenrs1057519346
ebirs1057519346
HLIrs1057519346
Exacrs1057519346
Gnomadrs1057519346
Varsomers1057519346
Maprs1057519346
PheGenIrs1057519346
Biobankrs1057519346
1000 genomesrs1057519346
hgdprs1057519346
ensemblrs1057519346
gopubmedrs1057519346
geneviewrs1057519346
scholarrs1057519346
googlers1057519346
pharmgkbrs1057519346
gwascentralrs1057519346
openSNPrs1057519346
23andMers1057519346
23andMe allrs1057519346
SNP Nexus

SNPshotrs1057519346
SNPdbers1057519346
MSV3drs1057519346
GWAS Ctlgrs1057519346
Max Magnitude0
ClinVar
Risk rs1057519346(GAC;GAC)
Alt rs1057519346(GAC;GAC)
Reference Rs1057519346(-;-)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene COQ8B ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41206294_41206296dupGTC
CLNSRC
CLNACC RCV000416394.1,