rs386833860

Orientation

minus

Stabilized

minus

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

Make rs386833860(-;-)

Make rs386833860(-;GAGAGAGA)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35852305

Gene	KIRREL2, NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833860
dbSNP (classic)	rs386833860
ClinGen	rs386833860
ebi	rs386833860
HLI	rs386833860
Exac	rs386833860
Gnomad	rs386833860
Varsome	rs386833860
LitVar	rs386833860
Map	rs386833860
PheGenI	rs386833860
Biobank	rs386833860
1000 genomes	rs386833860
hgdp	rs386833860
ensembl	rs386833860
geneview	rs386833860
scholar	rs386833860
google	rs386833860
pharmgkb	rs386833860
gwascentral	rs386833860
openSNP	rs386833860
23andMe	rs386833860
SNPshot	rs386833860
SNPdbe	rs386833860
MSV3d	rs386833860
GWAS Ctlg	rs386833860

Max Magnitude

0

ClinVar
Risk	rs386833860(-;-)
Alt	rs386833860(-;-)
Reference	Rs386833860(GAGAGAGA;GAGAGAGA)
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.36343207_36343214delTCTCTCTC
CLNSRC	ClinVar
CLNACC	RCV000049829.1,

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