rs386833861

Orientation

minus

Stabilized

minus

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

Make rs386833861(A;A)

Make rs386833861(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848788

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833861
dbSNP (classic)	rs386833861
ClinGen	rs386833861
ebi	rs386833861
HLI	rs386833861
Exac	rs386833861
Gnomad	rs386833861
Varsome	rs386833861
LitVar	rs386833861
Map	rs386833861
PheGenI	rs386833861
Biobank	rs386833861
1000 genomes	rs386833861
hgdp	rs386833861
ensembl	rs386833861
geneview	rs386833861
scholar	rs386833861
google	rs386833861
pharmgkb	rs386833861
gwascentral	rs386833861
openSNP	rs386833861
23andMe	rs386833861
SNPshot	rs386833861
SNPdbe	rs386833861
MSV3d	rs386833861
GWAS Ctlg	rs386833861

Max Magnitude

0

ClinVar
Risk	rs386833861(A;A)
Alt	rs386833861(A;A)
Reference	Rs386833861(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.36339690G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049830.1,

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