rs200253809

Orientation

plus

Stabilized

plus

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

Make rs200253809(A;A)

Make rs200253809(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35844249

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs200253809
dbSNP (classic)	rs200253809
ClinGen	rs200253809
ebi	rs200253809
HLI	rs200253809
Exac	rs200253809
Gnomad	rs200253809
Varsome	rs200253809
LitVar	rs200253809
Map	rs200253809
PheGenI	rs200253809
Biobank	rs200253809
1000 genomes	rs200253809
hgdp	rs200253809
ensembl	rs200253809
geneview	rs200253809
scholar	rs200253809
google	rs200253809
pharmgkb	rs200253809
gwascentral	rs200253809
openSNP	rs200253809
23andMe	rs200253809
SNPshot	rs200253809
SNPdbe	rs200253809
MSV3d	rs200253809
GWAS Ctlg	rs200253809

GMAF

0.001377

Max Magnitude

0

ClinVar
Risk	rs200253809(A;A) rs200253809(C;C) rs200253809(T;T)
Alt	rs200253809(A;A) rs200253809(C;C) rs200253809(T;T)
Reference	Rs200253809(G;G)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	0
HGVS	NC_000019.9:g.36335151G>C
CLNSRC	ClinVar
CLNACC	RCV000049874.1,

[PMID 18614772] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.