rs398122978

Orientation

minus

Stabilized

minus

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

Make rs398122978(C;T)

Make rs398122978(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

40705140

Gene

COQ8B

is a	snp
is	mentioned by
dbSNP	rs398122978
dbSNP (classic)	rs398122978
ClinGen	rs398122978
ebi	rs398122978
HLI	rs398122978
Exac	rs398122978
Gnomad	rs398122978
Varsome	rs398122978
LitVar	rs398122978
Map	rs398122978
PheGenI	rs398122978
Biobank	rs398122978
1000 genomes	rs398122978
hgdp	rs398122978
ensembl	rs398122978
geneview	rs398122978
scholar	rs398122978
google	rs398122978
pharmgkb	rs398122978
gwascentral	rs398122978
openSNP	rs398122978
23andMe	rs398122978
SNPshot	rs398122978
SNPdbe	rs398122978
MSV3d	rs398122978
GWAS Ctlg	rs398122978

Max Magnitude

0

ClinVar
Risk	rs398122978(T;T)
Alt	rs398122978(T;T)
Reference	Rs398122978(C;C)
Significance	Pathogenic
Disease	Nephrotic syndrome
Variation	info
Gene	COQ8B ADCK4
CLNDBN	Nephrotic syndrome, type 9
Reversed	1
HGVS	NC_000019.9:g.41211045G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000077753.3,