rs386833881

Orientation

minus

Stabilized

minus

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

Make rs386833881(A;A)

Make rs386833881(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848087

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833881
dbSNP (classic)	rs386833881
ClinGen	rs386833881
ebi	rs386833881
HLI	rs386833881
Exac	rs386833881
Gnomad	rs386833881
Varsome	rs386833881
LitVar	rs386833881
Map	rs386833881
PheGenI	rs386833881
Biobank	rs386833881
1000 genomes	rs386833881
hgdp	rs386833881
ensembl	rs386833881
geneview	rs386833881
scholar	rs386833881
google	rs386833881
pharmgkb	rs386833881
gwascentral	rs386833881
openSNP	rs386833881
23andMe	rs386833881
SNPshot	rs386833881
SNPdbe	rs386833881
MSV3d	rs386833881
GWAS Ctlg	rs386833881

Max Magnitude

0

ClinVar
Risk	rs386833881(A;A)
Alt	rs386833881(A;A)
Reference	Rs386833881(G;G)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36338989C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049852.1,

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