rs386833871

Orientation

minus

Stabilized

minus

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

Make rs386833871(C;T)

Make rs386833871(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848672

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833871
dbSNP (classic)	rs386833871
ClinGen	rs386833871
ebi	rs386833871
HLI	rs386833871
Exac	rs386833871
Gnomad	rs386833871
Varsome	rs386833871
LitVar	rs386833871
Map	rs386833871
PheGenI	rs386833871
Biobank	rs386833871
1000 genomes	rs386833871
hgdp	rs386833871
ensembl	rs386833871
geneview	rs386833871
scholar	rs386833871
google	rs386833871
pharmgkb	rs386833871
gwascentral	rs386833871
openSNP	rs386833871
23andMe	rs386833871
SNPshot	rs386833871
SNPdbe	rs386833871
MSV3d	rs386833871
GWAS Ctlg	rs386833871

Max Magnitude

0

ClinVar
Risk	rs386833871(T;T)
Alt	rs386833871(T;T)
Reference	Rs386833871(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.36339574G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049840.1,

[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

[PMID 19321760] NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.