rs386833874

Orientation

minus

Stabilized

minus

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

Make rs386833874(C;T)

Make rs386833874(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848349

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833874
dbSNP (classic)	rs386833874
ClinGen	rs386833874
ebi	rs386833874
HLI	rs386833874
Exac	rs386833874
Gnomad	rs386833874
Varsome	rs386833874
LitVar	rs386833874
Map	rs386833874
PheGenI	rs386833874
Biobank	rs386833874
1000 genomes	rs386833874
hgdp	rs386833874
ensembl	rs386833874
geneview	rs386833874
scholar	rs386833874
google	rs386833874
pharmgkb	rs386833874
gwascentral	rs386833874
openSNP	rs386833874
23andMe	rs386833874
SNPshot	rs386833874
SNPdbe	rs386833874
MSV3d	rs386833874
GWAS Ctlg	rs386833874

Max Magnitude

0

ClinVar
Risk	rs386833874(T;T)
Alt	rs386833874(T;T)
Reference	Rs386833874(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.36339251G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049843.1,

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