rs386833933

Orientation

minus

Stabilized

minus

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

Make rs386833933(A;A)

Make rs386833933(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35851340

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833933
dbSNP (classic)	rs386833933
ClinGen	rs386833933
ebi	rs386833933
HLI	rs386833933
Exac	rs386833933
Gnomad	rs386833933
Varsome	rs386833933
LitVar	rs386833933
Map	rs386833933
PheGenI	rs386833933
Biobank	rs386833933
1000 genomes	rs386833933
hgdp	rs386833933
ensembl	rs386833933
geneview	rs386833933
scholar	rs386833933
google	rs386833933
pharmgkb	rs386833933
gwascentral	rs386833933
openSNP	rs386833933
23andMe	rs386833933
SNPshot	rs386833933
SNPdbe	rs386833933
MSV3d	rs386833933
GWAS Ctlg	rs386833933

Max Magnitude

0

ClinVar
Risk	rs386833933(A;A)
Alt	rs386833933(A;A)
Reference	Rs386833933(G;G)
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.36342242C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049907.1,

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