rs386833882

Orientation

minus

Stabilized

minus

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

Make rs386833882(-;-)

Make rs386833882(-;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35851592

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833882
dbSNP (classic)	rs386833882
ClinGen	rs386833882
ebi	rs386833882
HLI	rs386833882
Exac	rs386833882
Gnomad	rs386833882
Varsome	rs386833882
LitVar	rs386833882
Map	rs386833882
PheGenI	rs386833882
Biobank	rs386833882
1000 genomes	rs386833882
hgdp	rs386833882
ensembl	rs386833882
geneview	rs386833882
scholar	rs386833882
google	rs386833882
pharmgkb	rs386833882
gwascentral	rs386833882
openSNP	rs386833882
23andMe	rs386833882
SNPshot	rs386833882
SNPdbe	rs386833882
MSV3d	rs386833882
GWAS Ctlg	rs386833882

Max Magnitude

0

ClinVar
Risk	rs386833882(-;-)
Alt	rs386833882(-;-)
Reference	Rs386833882(G;G)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1 KIRREL2
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36342494delC
CLNSRC	ClinVar
CLNACC	RCV000049853.2,

[PMID 18503012] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.