rs386833955

Orientation

minus

Stabilized

minus

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

Make rs386833955(A;C)

Make rs386833955(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35849655

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833955
dbSNP (classic)	rs386833955
ClinGen	rs386833955
ebi	rs386833955
HLI	rs386833955
Exac	rs386833955
Gnomad	rs386833955
Varsome	rs386833955
LitVar	rs386833955
Map	rs386833955
PheGenI	rs386833955
Biobank	rs386833955
1000 genomes	rs386833955
hgdp	rs386833955
ensembl	rs386833955
geneview	rs386833955
scholar	rs386833955
google	rs386833955
pharmgkb	rs386833955
gwascentral	rs386833955
openSNP	rs386833955
23andMe	rs386833955
SNPshot	rs386833955
SNPdbe	rs386833955
MSV3d	rs386833955
GWAS Ctlg	rs386833955

Max Magnitude

0

ClinVar
Risk	rs386833955(C;C) rs386833955(G;G)
Alt	rs386833955(C;C) rs386833955(G;G)
Reference	Rs386833955(A;A)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1 KIRREL2
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36340557T>G
CLNSRC	ClinVar
CLNACC	RCV000049930.1,

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