rs386833887

Orientation

minus

Stabilized

minus

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

Make rs386833887(A;A)

Make rs386833887(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35845725

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833887
dbSNP (classic)	rs386833887
ClinGen	rs386833887
ebi	rs386833887
HLI	rs386833887
Exac	rs386833887
Gnomad	rs386833887
Varsome	rs386833887
LitVar	rs386833887
Map	rs386833887
PheGenI	rs386833887
Biobank	rs386833887
1000 genomes	rs386833887
hgdp	rs386833887
ensembl	rs386833887
geneview	rs386833887
scholar	rs386833887
google	rs386833887
pharmgkb	rs386833887
gwascentral	rs386833887
openSNP	rs386833887
23andMe	rs386833887
SNPshot	rs386833887
SNPdbe	rs386833887
MSV3d	rs386833887
GWAS Ctlg	rs386833887

Max Magnitude

0

ClinVar
Risk	rs386833887(A;A)
Alt	rs386833887(A;A)
Reference	Rs386833887(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.36336627G>T
CLNSRC	ClinVar
CLNACC	RCV000049858.2,

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