rs386833866

Orientation

minus

Stabilized

minus

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

Make rs386833866(C;T)

Make rs386833866(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848705

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833866
dbSNP (classic)	rs386833866
ClinGen	rs386833866
ebi	rs386833866
HLI	rs386833866
Exac	rs386833866
Gnomad	rs386833866
Varsome	rs386833866
LitVar	rs386833866
Map	rs386833866
PheGenI	rs386833866
Biobank	rs386833866
1000 genomes	rs386833866
hgdp	rs386833866
ensembl	rs386833866
geneview	rs386833866
scholar	rs386833866
google	rs386833866
pharmgkb	rs386833866
gwascentral	rs386833866
openSNP	rs386833866
23andMe	rs386833866
SNPshot	rs386833866
SNPdbe	rs386833866
MSV3d	rs386833866
GWAS Ctlg	rs386833866

Max Magnitude

0

ClinVar
Risk	rs386833866(T;T)
Alt	rs386833866(T;T)
Reference	Rs386833866(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.36339607G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049836.1,

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