rs386833957

minus

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

Make rs386833957(-;-)

Make rs386833957(-;AG)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35849600

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833957
dbSNP (classic)	rs386833957
ClinGen	rs386833957
ebi	rs386833957
HLI	rs386833957
Exac	rs386833957
Gnomad	rs386833957
Varsome	rs386833957
LitVar	rs386833957
Map	rs386833957
PheGenI	rs386833957
Biobank	rs386833957
1000 genomes	rs386833957
hgdp	rs386833957
ensembl	rs386833957
geneview	rs386833957
scholar	rs386833957
google	rs386833957
pharmgkb	rs386833957
gwascentral	rs386833957
openSNP	rs386833957
23andMe	rs386833957
SNPshot	rs386833957
SNPdbe	rs386833957
MSV3d	rs386833957
GWAS Ctlg	rs386833957

Max Magnitude

0

ClinVar
Risk	rs386833957(-;-)
Alt	rs386833957(-;-)
Reference	Rs386833957(AG;AG)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36340502_36340503delCT
CLNSRC	ClinVar
CLNACC	RCV000049932.1,

[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.