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rs1057519345

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519345(A;A)
Make rs1057519345(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position40714532
GeneCOQ8B
is asnp
is mentioned by
dbSNPrs1057519345
dbSNP (classic)rs1057519345
ClinGenrs1057519345
ebirs1057519345
HLIrs1057519345
Exacrs1057519345
Gnomadrs1057519345
Varsomers1057519345
LitVarrs1057519345
Maprs1057519345
PheGenIrs1057519345
Biobankrs1057519345
1000 genomesrs1057519345
hgdprs1057519345
ensemblrs1057519345
geneviewrs1057519345
scholarrs1057519345
googlers1057519345
pharmgkbrs1057519345
gwascentralrs1057519345
openSNPrs1057519345
23andMers1057519345
SNPshotrs1057519345
SNPdbers1057519345
MSV3drs1057519345
GWAS Ctlgrs1057519345
Max Magnitude0
ClinVar
Risk rs1057519345(A;A)
Alt rs1057519345(A;A)
Reference Rs1057519345(G;G)
Significance Pathogenic
Disease Nephrotic syndrome
Variation info
Gene COQ8B ADCK4
CLNDBN Nephrotic syndrome, type 9
Reversed 1
HGVS NC_000019.9:g.41220437C>T
CLNSRC
CLNACC RCV000416411.1,