rs200905486

Orientation

plus

Stabilized

plus

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

Make rs200905486(C;T)

Make rs200905486(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848707

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs200905486
dbSNP (classic)	rs200905486
ClinGen	rs200905486
ebi	rs200905486
HLI	rs200905486
Exac	rs200905486
Gnomad	rs200905486
Varsome	rs200905486
LitVar	rs200905486
Map	rs200905486
PheGenI	rs200905486
Biobank	rs200905486
1000 genomes	rs200905486
hgdp	rs200905486
ensembl	rs200905486
geneview	rs200905486
scholar	rs200905486
google	rs200905486
pharmgkb	rs200905486
gwascentral	rs200905486
openSNP	rs200905486
23andMe	rs200905486
SNPshot	rs200905486
SNPdbe	rs200905486
MSV3d	rs200905486
GWAS Ctlg	rs200905486

Max Magnitude

0

ClinVar
Risk	rs200905486(A;A) rs200905486(T;T)
Alt	rs200905486(A;A) rs200905486(T;T)
Reference	Rs200905486(C;C)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	0
HGVS	NC_000019.9:g.36339609C>T
CLNSRC	ClinVar
CLNACC	RCV000049835.1,

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