rs386833864

Orientation

minus

Stabilized

minus

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

Make rs386833864(A;C)

Make rs386833864(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848711

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833864
dbSNP (classic)	rs386833864
ClinGen	rs386833864
ebi	rs386833864
HLI	rs386833864
Exac	rs386833864
Gnomad	rs386833864
Varsome	rs386833864
LitVar	rs386833864
Map	rs386833864
PheGenI	rs386833864
Biobank	rs386833864
1000 genomes	rs386833864
hgdp	rs386833864
ensembl	rs386833864
geneview	rs386833864
scholar	rs386833864
google	rs386833864
pharmgkb	rs386833864
gwascentral	rs386833864
openSNP	rs386833864
23andMe	rs386833864
SNPshot	rs386833864
SNPdbe	rs386833864
MSV3d	rs386833864
GWAS Ctlg	rs386833864

Max Magnitude

0

ClinVar
Risk	rs386833864(C;C)
Alt	rs386833864(C;C)
Reference	Rs386833864(A;A)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36339613T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049833.1,

[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).