rs386833897

Orientation

minus

Stabilized

minus

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

Make rs386833897(C;C)

Make rs386833897(C;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35851540

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833897
dbSNP (classic)	rs386833897
ClinGen	rs386833897
ebi	rs386833897
HLI	rs386833897
Exac	rs386833897
Gnomad	rs386833897
Varsome	rs386833897
LitVar	rs386833897
Map	rs386833897
PheGenI	rs386833897
Biobank	rs386833897
1000 genomes	rs386833897
hgdp	rs386833897
ensembl	rs386833897
geneview	rs386833897
scholar	rs386833897
google	rs386833897
pharmgkb	rs386833897
gwascentral	rs386833897
openSNP	rs386833897
23andMe	rs386833897
SNPshot	rs386833897
SNPdbe	rs386833897
MSV3d	rs386833897
GWAS Ctlg	rs386833897

Max Magnitude

0

ClinVar
Risk	rs386833897(C;C)
Alt	rs386833897(C;C)
Reference	Rs386833897(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.36342442C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049868.1,

[PMID 9915943] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.