rs191807913

Orientation

plus

Stabilized

plus

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

Make rs191807913(C;C)

Make rs191807913(C;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35844371

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs191807913
dbSNP (classic)	rs191807913
ClinGen	rs191807913
ebi	rs191807913
HLI	rs191807913
Exac	rs191807913
Gnomad	rs191807913
Varsome	rs191807913
LitVar	rs191807913
Map	rs191807913
PheGenI	rs191807913
Biobank	rs191807913
1000 genomes	rs191807913
hgdp	rs191807913
ensembl	rs191807913
geneview	rs191807913
scholar	rs191807913
google	rs191807913
pharmgkb	rs191807913
gwascentral	rs191807913
openSNP	rs191807913
23andMe	rs191807913
SNPshot	rs191807913
SNPdbe	rs191807913
MSV3d	rs191807913
GWAS Ctlg	rs191807913

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs191807913(C;C) rs191807913(T;T)
Alt	rs191807913(C;C) rs191807913(T;T)
Reference	Rs191807913(G;G)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	0
HGVS	NC_000019.9:g.36335273G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049871.1,

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