rs386833914

Orientation

minus

Stabilized

minus

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

Make rs386833914(-;A)

Make rs386833914(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35851482

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833914
dbSNP (classic)	rs386833914
ClinGen	rs386833914
ebi	rs386833914
HLI	rs386833914
Exac	rs386833914
Gnomad	rs386833914
Varsome	rs386833914
LitVar	rs386833914
Map	rs386833914
PheGenI	rs386833914
Biobank	rs386833914
1000 genomes	rs386833914
hgdp	rs386833914
ensembl	rs386833914
geneview	rs386833914
scholar	rs386833914
google	rs386833914
pharmgkb	rs386833914
gwascentral	rs386833914
openSNP	rs386833914
23andMe	rs386833914
SNPshot	rs386833914
SNPdbe	rs386833914
MSV3d	rs386833914
GWAS Ctlg	rs386833914

Max Magnitude

0

ClinVar
Risk	rs386833914(A;A)
Alt	rs386833914(A;A)
Reference	Rs386833914(-;-)
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.36342385dupT
CLNSRC	ClinVar
CLNACC	RCV000049888.1,

[PMID 15906409] Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.