rs386833862

Orientation

minus

Stabilized

minus

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

Make rs386833862(A;A)

Make rs386833862(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848767

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833862
dbSNP (classic)	rs386833862
ClinGen	rs386833862
ebi	rs386833862
HLI	rs386833862
Exac	rs386833862
Gnomad	rs386833862
Varsome	rs386833862
LitVar	rs386833862
Map	rs386833862
PheGenI	rs386833862
Biobank	rs386833862
1000 genomes	rs386833862
hgdp	rs386833862
ensembl	rs386833862
geneview	rs386833862
scholar	rs386833862
google	rs386833862
pharmgkb	rs386833862
gwascentral	rs386833862
openSNP	rs386833862
23andMe	rs386833862
SNPshot	rs386833862
SNPdbe	rs386833862
MSV3d	rs386833862
GWAS Ctlg	rs386833862

Max Magnitude

0

ClinVar
Risk	rs386833862(A;A)
Alt	rs386833862(A;A)
Reference	Rs386833862(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.36339669C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049831.1,

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