rs386833898

minus

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

Make rs386833898(C;C)

Make rs386833898(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35845370

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833898
dbSNP (classic)	rs386833898
ClinGen	rs386833898
ebi	rs386833898
HLI	rs386833898
Exac	rs386833898
Gnomad	rs386833898
Varsome	rs386833898
LitVar	rs386833898
Map	rs386833898
PheGenI	rs386833898
Biobank	rs386833898
1000 genomes	rs386833898
hgdp	rs386833898
ensembl	rs386833898
geneview	rs386833898
scholar	rs386833898
google	rs386833898
pharmgkb	rs386833898
gwascentral	rs386833898
openSNP	rs386833898
23andMe	rs386833898
SNPshot	rs386833898
SNPdbe	rs386833898
MSV3d	rs386833898
GWAS Ctlg	rs386833898

Max Magnitude

0

ClinVar
Risk	rs386833898(C;C) rs386833898(G;G)
Alt	rs386833898(C;C) rs386833898(G;G)
Reference	Rs386833898(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.36336272A>G
CLNSRC	ClinVar
CLNACC	RCV000049869.1,

[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.