rs386833918

Orientation

minus

Stabilized

minus

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

Make rs386833918(-;-)

Make rs386833918(-;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35842272

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833918
dbSNP (classic)	rs386833918
ClinGen	rs386833918
ebi	rs386833918
HLI	rs386833918
Exac	rs386833918
Gnomad	rs386833918
Varsome	rs386833918
LitVar	rs386833918
Map	rs386833918
PheGenI	rs386833918
Biobank	rs386833918
1000 genomes	rs386833918
hgdp	rs386833918
ensembl	rs386833918
geneview	rs386833918
scholar	rs386833918
google	rs386833918
pharmgkb	rs386833918
gwascentral	rs386833918
openSNP	rs386833918
23andMe	rs386833918
SNPshot	rs386833918
SNPdbe	rs386833918
MSV3d	rs386833918
GWAS Ctlg	rs386833918

Max Magnitude

0

ClinVar
Risk	rs386833918(-;-)
Alt	rs386833918(-;-)
Reference	Rs386833918(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.36333174delG
CLNSRC	ClinVar
CLNACC	RCV000049892.1,

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