rs386833943

Orientation

minus

Stabilized

minus

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

Make rs386833943(C;G)

Make rs386833943(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35851019

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833943
dbSNP (classic)	rs386833943
ClinGen	rs386833943
ebi	rs386833943
HLI	rs386833943
Exac	rs386833943
Gnomad	rs386833943
Varsome	rs386833943
LitVar	rs386833943
Map	rs386833943
PheGenI	rs386833943
Biobank	rs386833943
1000 genomes	rs386833943
hgdp	rs386833943
ensembl	rs386833943
geneview	rs386833943
scholar	rs386833943
google	rs386833943
pharmgkb	rs386833943
gwascentral	rs386833943
openSNP	rs386833943
23andMe	rs386833943
SNPshot	rs386833943
SNPdbe	rs386833943
MSV3d	rs386833943
GWAS Ctlg	rs386833943

Max Magnitude

0

ClinVar
Risk	rs386833943(G;G)
Alt	rs386833943(G;G)
Reference	Rs386833943(C;C)
Significance	Other
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1 KIRREL2
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36341921G>C
CLNSRC	ClinVar
CLNACC	RCV000049918.1,

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

[PMID 18614772] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.