rs386833863

Orientation

minus

Stabilized

minus

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

Make rs386833863(C;C)

Make rs386833863(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848759

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833863
dbSNP (classic)	rs386833863
ClinGen	rs386833863
ebi	rs386833863
HLI	rs386833863
Exac	rs386833863
Gnomad	rs386833863
Varsome	rs386833863
LitVar	rs386833863
Map	rs386833863
PheGenI	rs386833863
Biobank	rs386833863
1000 genomes	rs386833863
hgdp	rs386833863
ensembl	rs386833863
geneview	rs386833863
scholar	rs386833863
google	rs386833863
pharmgkb	rs386833863
gwascentral	rs386833863
openSNP	rs386833863
23andMe	rs386833863
SNPshot	rs386833863
SNPdbe	rs386833863
MSV3d	rs386833863
GWAS Ctlg	rs386833863

Max Magnitude

0

ClinVar
Risk	rs386833863(C;C)
Alt	rs386833863(C;C)
Reference	Rs386833863(T;T)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36339661A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049832.2,

[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).