rs398122983

Orientation

minus

Stabilized

minus

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

Make rs398122983(-;-)

Make rs398122983(-;GGGCCCT)

Reference

GRCh38 38.1/142

Chromosome

19

Position

40692308

Gene	COQ8B, NUMBL

is a	snp
is	mentioned by
dbSNP	rs398122983
dbSNP (classic)	rs398122983
ClinGen	rs398122983
ebi	rs398122983
HLI	rs398122983
Exac	rs398122983
Gnomad	rs398122983
Varsome	rs398122983
LitVar	rs398122983
Map	rs398122983
PheGenI	rs398122983
Biobank	rs398122983
1000 genomes	rs398122983
hgdp	rs398122983
ensembl	rs398122983
geneview	rs398122983
scholar	rs398122983
google	rs398122983
pharmgkb	rs398122983
gwascentral	rs398122983
openSNP	rs398122983
23andMe	rs398122983
SNPshot	rs398122983
SNPdbe	rs398122983
MSV3d	rs398122983
GWAS Ctlg	rs398122983

Max Magnitude

0

ClinVar
Risk	rs398122983(-;-)
Alt	rs398122983(-;-)
Reference	Rs398122983(GGGCCCT;GGGCCCT)
Significance	Pathogenic
Disease	Nephrotic syndrome
Variation	info
Gene	COQ8B NUMBL ADCK4
CLNDBN	Nephrotic syndrome, type 9
Reversed	1
HGVS	NC_000019.9:g.41198213_41198219delAGGGCCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000077759.4,