rs386833869

Orientation

minus

Stabilized

minus

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

Make rs386833869(A;A)

Make rs386833869(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848673

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833869
dbSNP (classic)	rs386833869
ClinGen	rs386833869
ebi	rs386833869
HLI	rs386833869
Exac	rs386833869
Gnomad	rs386833869
Varsome	rs386833869
LitVar	rs386833869
Map	rs386833869
PheGenI	rs386833869
Biobank	rs386833869
1000 genomes	rs386833869
hgdp	rs386833869
ensembl	rs386833869
geneview	rs386833869
scholar	rs386833869
google	rs386833869
pharmgkb	rs386833869
gwascentral	rs386833869
openSNP	rs386833869
23andMe	rs386833869
SNPshot	rs386833869
SNPdbe	rs386833869
MSV3d	rs386833869
GWAS Ctlg	rs386833869

Max Magnitude

0

ClinVar
Risk	rs386833869(A;A) rs386833869(T;T)
Alt	rs386833869(A;A) rs386833869(T;T)
Reference	Rs386833869(G;G)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36339575C>T
CLNSRC	ClinVar
CLNACC	RCV000049839.1,

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