rs386833890

Orientation

minus

Stabilized

minus

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

Make rs386833890(A;A)

Make rs386833890(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35845702

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833890
dbSNP (classic)	rs386833890
ClinGen	rs386833890
ebi	rs386833890
HLI	rs386833890
Exac	rs386833890
Gnomad	rs386833890
Varsome	rs386833890
LitVar	rs386833890
Map	rs386833890
PheGenI	rs386833890
Biobank	rs386833890
1000 genomes	rs386833890
hgdp	rs386833890
ensembl	rs386833890
geneview	rs386833890
scholar	rs386833890
google	rs386833890
pharmgkb	rs386833890
gwascentral	rs386833890
openSNP	rs386833890
23andMe	rs386833890
SNPshot	rs386833890
SNPdbe	rs386833890
MSV3d	rs386833890
GWAS Ctlg	rs386833890

Max Magnitude

0

ClinVar
Risk	rs386833890(A;A)
Alt	rs386833890(A;A)
Reference	Rs386833890(C;C)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36336604G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049861.1,

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