rs386833867

Orientation

minus

Stabilized

minus

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

Make rs386833867(C;T)

Make rs386833867(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848704

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833867
dbSNP (classic)	rs386833867
ClinGen	rs386833867
ebi	rs386833867
HLI	rs386833867
Exac	rs386833867
Gnomad	rs386833867
Varsome	rs386833867
LitVar	rs386833867
Map	rs386833867
PheGenI	rs386833867
Biobank	rs386833867
1000 genomes	rs386833867
hgdp	rs386833867
ensembl	rs386833867
geneview	rs386833867
scholar	rs386833867
google	rs386833867
pharmgkb	rs386833867
gwascentral	rs386833867
openSNP	rs386833867
23andMe	rs386833867
SNPshot	rs386833867
SNPdbe	rs386833867
MSV3d	rs386833867
GWAS Ctlg	rs386833867

Max Magnitude

0

ClinVar
Risk	rs386833867(T;T)
Alt	rs386833867(T;T)
Reference	Rs386833867(C;C)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36339606G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049837.1,

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