rs386833900

Orientation

minus

Stabilized

minus

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

Make rs386833900(G;T)

Make rs386833900(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35844347

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833900
dbSNP (classic)	rs386833900
ClinGen	rs386833900
ebi	rs386833900
HLI	rs386833900
Exac	rs386833900
Gnomad	rs386833900
Varsome	rs386833900
LitVar	rs386833900
Map	rs386833900
PheGenI	rs386833900
Biobank	rs386833900
1000 genomes	rs386833900
hgdp	rs386833900
ensembl	rs386833900
geneview	rs386833900
scholar	rs386833900
google	rs386833900
pharmgkb	rs386833900
gwascentral	rs386833900
openSNP	rs386833900
23andMe	rs386833900
SNPshot	rs386833900
SNPdbe	rs386833900
MSV3d	rs386833900
GWAS Ctlg	rs386833900

Max Magnitude

0

ClinVar
Risk	rs386833900(T;T)
Alt	rs386833900(T;T)
Reference	Rs386833900(G;G)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36335249C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049872.1,

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