rs1057519347

Orientation

minus

Stabilized

minus

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

Make rs1057519347(A;A)

Make rs1057519347(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

40692240

Gene	COQ8B, NUMBL

is a	snp
is	mentioned by
dbSNP	rs1057519347
dbSNP (classic)	rs1057519347
ClinGen	rs1057519347
ebi	rs1057519347
HLI	rs1057519347
Exac	rs1057519347
Gnomad	rs1057519347
Varsome	rs1057519347
LitVar	rs1057519347
Map	rs1057519347
PheGenI	rs1057519347
Biobank	rs1057519347
1000 genomes	rs1057519347
hgdp	rs1057519347
ensembl	rs1057519347
geneview	rs1057519347
scholar	rs1057519347
google	rs1057519347
pharmgkb	rs1057519347
gwascentral	rs1057519347
openSNP	rs1057519347
23andMe	rs1057519347
SNPshot	rs1057519347
SNPdbe	rs1057519347
MSV3d	rs1057519347
GWAS Ctlg	rs1057519347

Max Magnitude

0

ClinVar
Risk	rs1057519347(A;A)
Alt	rs1057519347(A;A)
Reference	Rs1057519347(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.41198145C>T
CLNSRC
CLNACC	RCV000416385.1,