rs386833928

Orientation

minus

Stabilized

minus

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

Make rs386833928(-;-)

Make rs386833928(-;ATAGGCCGCCC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35839601

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833928
dbSNP (classic)	rs386833928
ClinGen	rs386833928
ebi	rs386833928
HLI	rs386833928
Exac	rs386833928
Gnomad	rs386833928
Varsome	rs386833928
LitVar	rs386833928
Map	rs386833928
PheGenI	rs386833928
Biobank	rs386833928
1000 genomes	rs386833928
hgdp	rs386833928
ensembl	rs386833928
geneview	rs386833928
scholar	rs386833928
google	rs386833928
pharmgkb	rs386833928
gwascentral	rs386833928
openSNP	rs386833928
23andMe	rs386833928
SNPshot	rs386833928
SNPdbe	rs386833928
MSV3d	rs386833928
GWAS Ctlg	rs386833928

Max Magnitude

0

ClinVar
Risk	rs386833928(-;-)
Alt	rs386833928(-;-)
Reference	Rs386833928(ATAGGCCGCCC;ATAGGCCGCCC)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36330503_36330513delGGGCGGCCTAT
CLNSRC	ClinVar
CLNACC	RCV000049902.1,

[PMID 18503012] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.