rs386833941

Orientation

minus

Stabilized

minus

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

Make rs386833941(-;-)

Make rs386833941(-;GGTGTAAGAGCCCTCT)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35826505

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833941
dbSNP (classic)	rs386833941
ClinGen	rs386833941
ebi	rs386833941
HLI	rs386833941
Exac	rs386833941
Gnomad	rs386833941
Varsome	rs386833941
LitVar	rs386833941
Map	rs386833941
PheGenI	rs386833941
Biobank	rs386833941
1000 genomes	rs386833941
hgdp	rs386833941
ensembl	rs386833941
geneview	rs386833941
scholar	rs386833941
google	rs386833941
pharmgkb	rs386833941
gwascentral	rs386833941
openSNP	rs386833941
23andMe	rs386833941
SNPshot	rs386833941
SNPdbe	rs386833941
MSV3d	rs386833941
GWAS Ctlg	rs386833941

Max Magnitude

0

ClinVar
Risk	rs386833941(-;-)
Alt	rs386833941(-;-)
Reference	Rs386833941(GGTGTAAGAGCCCTCT;GGTGTAAGAGCCCTCT)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36317407_36317422del16
CLNSRC
CLNACC	RCV000049916.1,

[PMID 18614772] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.