rs114203578

Orientation

plus

Stabilized

plus

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

Make rs114203578(C;T)

Make rs114203578(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35842480

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs114203578
dbSNP (classic)	rs114203578
ClinGen	rs114203578
ebi	rs114203578
HLI	rs114203578
Exac	rs114203578
Gnomad	rs114203578
Varsome	rs114203578
LitVar	rs114203578
Map	rs114203578
PheGenI	rs114203578
Biobank	rs114203578
1000 genomes	rs114203578
hgdp	rs114203578
ensembl	rs114203578
geneview	rs114203578
scholar	rs114203578
google	rs114203578
pharmgkb	rs114203578
gwascentral	rs114203578
openSNP	rs114203578
23andMe	rs114203578
SNPshot	rs114203578
SNPdbe	rs114203578
MSV3d	rs114203578
GWAS Ctlg	rs114203578

Max Magnitude

0

ClinVar
Risk	rs114203578(G;G) rs114203578(T;T)
Alt	rs114203578(G;G) rs114203578(T;T)
Reference	Rs114203578(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.36333382C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049885.1,

[PMID 9915943] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.