rs386833948

Orientation

minus

Stabilized

minus

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

Make rs386833948(-;-)

Make rs386833948(-;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35850971

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833948
dbSNP (classic)	rs386833948
ClinGen	rs386833948
ebi	rs386833948
HLI	rs386833948
Exac	rs386833948
Gnomad	rs386833948
Varsome	rs386833948
LitVar	rs386833948
Map	rs386833948
PheGenI	rs386833948
Biobank	rs386833948
1000 genomes	rs386833948
hgdp	rs386833948
ensembl	rs386833948
geneview	rs386833948
scholar	rs386833948
google	rs386833948
pharmgkb	rs386833948
gwascentral	rs386833948
openSNP	rs386833948
23andMe	rs386833948
SNPshot	rs386833948
SNPdbe	rs386833948
MSV3d	rs386833948
GWAS Ctlg	rs386833948

Max Magnitude

0

ClinVar
Risk	rs386833948(-;-)
Alt	rs386833948(-;-)
Reference	Rs386833948(C;C)
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.36341873delG
CLNSRC	ClinVar
CLNACC	RCV000049923.1,

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