rs386833927

Orientation

minus

Stabilized

minus

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

Make rs386833927(A;A)

Make rs386833927(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35841710

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833927
dbSNP (classic)	rs386833927
ClinGen	rs386833927
ebi	rs386833927
HLI	rs386833927
Exac	rs386833927
Gnomad	rs386833927
Varsome	rs386833927
LitVar	rs386833927
Map	rs386833927
PheGenI	rs386833927
Biobank	rs386833927
1000 genomes	rs386833927
hgdp	rs386833927
ensembl	rs386833927
geneview	rs386833927
scholar	rs386833927
google	rs386833927
pharmgkb	rs386833927
gwascentral	rs386833927
openSNP	rs386833927
23andMe	rs386833927
SNPshot	rs386833927
SNPdbe	rs386833927
MSV3d	rs386833927
GWAS Ctlg	rs386833927

Max Magnitude

0

ClinVar
Risk	rs386833927(A;A)
Alt	rs386833927(A;A)
Reference	Rs386833927(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.36332612C>T
CLNSRC	ClinVar
CLNACC	RCV000049901.1,

[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).