rs386833929

Orientation

minus

Stabilized

minus

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

Make rs386833929(C;G)

Make rs386833929(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35851373

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833929
dbSNP (classic)	rs386833929
ClinGen	rs386833929
ebi	rs386833929
HLI	rs386833929
Exac	rs386833929
Gnomad	rs386833929
Varsome	rs386833929
LitVar	rs386833929
Map	rs386833929
PheGenI	rs386833929
Biobank	rs386833929
1000 genomes	rs386833929
hgdp	rs386833929
ensembl	rs386833929
geneview	rs386833929
scholar	rs386833929
google	rs386833929
pharmgkb	rs386833929
gwascentral	rs386833929
openSNP	rs386833929
23andMe	rs386833929
SNPshot	rs386833929
SNPdbe	rs386833929
MSV3d	rs386833929
GWAS Ctlg	rs386833929

Max Magnitude

0

ClinVar
Risk	rs386833929(G;G)
Alt	rs386833929(G;G)
Reference	Rs386833929(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.36342275G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049903.1,

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