rs386833901

Orientation

minus

Stabilized

minus

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

Make rs386833901(C;C)

Make rs386833901(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35844317

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833901
dbSNP (classic)	rs386833901
ClinGen	rs386833901
ebi	rs386833901
HLI	rs386833901
Exac	rs386833901
Gnomad	rs386833901
Varsome	rs386833901
LitVar	rs386833901
Map	rs386833901
PheGenI	rs386833901
Biobank	rs386833901
1000 genomes	rs386833901
hgdp	rs386833901
ensembl	rs386833901
geneview	rs386833901
scholar	rs386833901
google	rs386833901
pharmgkb	rs386833901
gwascentral	rs386833901
openSNP	rs386833901
23andMe	rs386833901
SNPshot	rs386833901
SNPdbe	rs386833901
MSV3d	rs386833901
GWAS Ctlg	rs386833901

Max Magnitude

0

ClinVar
Risk	rs386833901(C;C)
Alt	rs386833901(C;C)
Reference	Rs386833901(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.36335219A>G
CLNSRC	ClinVar
CLNACC	RCV000049873.1,

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