rs398122981

Orientation

minus

Stabilized

minus

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

Make rs398122981(C;T)

Make rs398122981(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

40700318

Gene

COQ8B

is a	snp
is	mentioned by
dbSNP	rs398122981
dbSNP (classic)	rs398122981
ClinGen	rs398122981
ebi	rs398122981
HLI	rs398122981
Exac	rs398122981
Gnomad	rs398122981
Varsome	rs398122981
LitVar	rs398122981
Map	rs398122981
PheGenI	rs398122981
Biobank	rs398122981
1000 genomes	rs398122981
hgdp	rs398122981
ensembl	rs398122981
geneview	rs398122981
scholar	rs398122981
google	rs398122981
pharmgkb	rs398122981
gwascentral	rs398122981
openSNP	rs398122981
23andMe	rs398122981
SNPshot	rs398122981
SNPdbe	rs398122981
MSV3d	rs398122981
GWAS Ctlg	rs398122981

Max Magnitude

0

ClinVar
Risk	rs398122981(T;T)
Alt	rs398122981(T;T)
Reference	Rs398122981(C;C)
Significance	Pathogenic
Disease	Nephrotic syndrome
Variation	info
Gene	COQ8B ADCK4
CLNDBN	Nephrotic syndrome, type 9
Reversed	1
HGVS	NC_000019.9:g.41206223G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000077757.4,