rs398122980

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs398122980(G;T)

Make rs398122980(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

40692223

Gene	COQ8B, NUMBL

is a	snp
is	mentioned by
dbSNP	rs398122980
dbSNP (classic)	rs398122980
ClinGen	rs398122980
ebi	rs398122980
HLI	rs398122980
Exac	rs398122980
Gnomad	rs398122980
Varsome	rs398122980
LitVar	rs398122980
Map	rs398122980
PheGenI	rs398122980
Biobank	rs398122980
1000 genomes	rs398122980
hgdp	rs398122980
ensembl	rs398122980
geneview	rs398122980
scholar	rs398122980
google	rs398122980
pharmgkb	rs398122980
gwascentral	rs398122980
openSNP	rs398122980
23andMe	rs398122980
SNPshot	rs398122980
SNPdbe	rs398122980
MSV3d	rs398122980
GWAS Ctlg	rs398122980

Max Magnitude

0

ClinVar
Risk	rs398122980(A;A) rs398122980(T;T)
Alt	rs398122980(A;A) rs398122980(T;T)
Reference	Rs398122980(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.41198128C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000077755.4,