rs386833875

Orientation

minus

Stabilized

minus

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

Make rs386833875(G;T)

Make rs386833875(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848318

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833875
dbSNP (classic)	rs386833875
ClinGen	rs386833875
ebi	rs386833875
HLI	rs386833875
Exac	rs386833875
Gnomad	rs386833875
Varsome	rs386833875
LitVar	rs386833875
Map	rs386833875
PheGenI	rs386833875
Biobank	rs386833875
1000 genomes	rs386833875
hgdp	rs386833875
ensembl	rs386833875
geneview	rs386833875
scholar	rs386833875
google	rs386833875
pharmgkb	rs386833875
gwascentral	rs386833875
openSNP	rs386833875
23andMe	rs386833875
SNPshot	rs386833875
SNPdbe	rs386833875
MSV3d	rs386833875
GWAS Ctlg	rs386833875

Max Magnitude

0

ClinVar
Risk	rs386833875(T;T)
Alt	rs386833875(T;T)
Reference	Rs386833875(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.36339220C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049846.1,

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