rs143092783

Orientation

plus

Stabilized

plus

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

Make rs143092783(G;T)

Make rs143092783(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35831116

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs143092783
dbSNP (classic)	rs143092783
ClinGen	rs143092783
ebi	rs143092783
HLI	rs143092783
Exac	rs143092783
Gnomad	rs143092783
Varsome	rs143092783
LitVar	rs143092783
Map	rs143092783
PheGenI	rs143092783
Biobank	rs143092783
1000 genomes	rs143092783
hgdp	rs143092783
ensembl	rs143092783
geneview	rs143092783
scholar	rs143092783
google	rs143092783
pharmgkb	rs143092783
gwascentral	rs143092783
openSNP	rs143092783
23andMe	rs143092783
SNPshot	rs143092783
SNPdbe	rs143092783
MSV3d	rs143092783
GWAS Ctlg	rs143092783

GMAF

0.001837

Max Magnitude

0

ClinVar
Risk	rs143092783(A;A) rs143092783(T;T)
Alt	rs143092783(A;A) rs143092783(T;T)
Reference	Rs143092783(G;G)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome not specified
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome not specified
Reversed	0
HGVS	NC_000019.9:g.36322018G>A; NC_000019.9:g.36322018G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049913.1, RCV000251305.1,

[PMID 9915943] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).