rs142008044

Orientation

plus

Stabilized

plus

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

Make rs142008044(C;T)

Make rs142008044(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848334

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs142008044
dbSNP (classic)	rs142008044
ClinGen	rs142008044
ebi	rs142008044
HLI	rs142008044
Exac	rs142008044
Gnomad	rs142008044
Varsome	rs142008044
LitVar	rs142008044
Map	rs142008044
PheGenI	rs142008044
Biobank	rs142008044
1000 genomes	rs142008044
hgdp	rs142008044
ensembl	rs142008044
geneview	rs142008044
scholar	rs142008044
google	rs142008044
pharmgkb	rs142008044
gwascentral	rs142008044
openSNP	rs142008044
23andMe	rs142008044
SNPshot	rs142008044
SNPdbe	rs142008044
MSV3d	rs142008044
GWAS Ctlg	rs142008044

Max Magnitude

0

ClinVar
Risk	rs142008044(A;A) rs142008044(G;G) rs142008044(T;T)
Alt	rs142008044(A;A) rs142008044(G;G) rs142008044(T;T)
Reference	Rs142008044(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.36339236C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049845.1,

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