rs386833868

Orientation

minus

Stabilized

minus

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

Make rs386833868(C;G)

Make rs386833868(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848681

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833868
dbSNP (classic)	rs386833868
ClinGen	rs386833868
ebi	rs386833868
HLI	rs386833868
Exac	rs386833868
Gnomad	rs386833868
Varsome	rs386833868
LitVar	rs386833868
Map	rs386833868
PheGenI	rs386833868
Biobank	rs386833868
1000 genomes	rs386833868
hgdp	rs386833868
ensembl	rs386833868
geneview	rs386833868
scholar	rs386833868
google	rs386833868
pharmgkb	rs386833868
gwascentral	rs386833868
openSNP	rs386833868
23andMe	rs386833868
SNPshot	rs386833868
SNPdbe	rs386833868
MSV3d	rs386833868
GWAS Ctlg	rs386833868

Max Magnitude

0

ClinVar
Risk	rs386833868(G;G)
Alt	rs386833868(G;G)
Reference	Rs386833868(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.36339583G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049838.1,

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