rs386833925

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AACGCCC;AACGCCC)	0	common in clinvar
(CAACGCC;CAACGCC)	0	common/normal

Make rs386833925(-;-)

Make rs386833925(-;CAACGCC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35841755

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833925
dbSNP (classic)	rs386833925
ClinGen	rs386833925
ebi	rs386833925
HLI	rs386833925
Exac	rs386833925
Gnomad	rs386833925
Varsome	rs386833925
LitVar	rs386833925
Map	rs386833925
PheGenI	rs386833925
Biobank	rs386833925
1000 genomes	rs386833925
hgdp	rs386833925
ensembl	rs386833925
geneview	rs386833925
scholar	rs386833925
google	rs386833925
pharmgkb	rs386833925
gwascentral	rs386833925
openSNP	rs386833925
23andMe	rs386833925
SNPshot	rs386833925
SNPdbe	rs386833925
MSV3d	rs386833925
GWAS Ctlg	rs386833925

Max Magnitude

0

ClinVar
Risk	rs386833925(-;-)
Alt	rs386833925(-;-)
Reference	Rs386833925(AACGCCC;AACGCCC)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36332657_36332663delGGCGTTG
CLNSRC	ClinVar
CLNACC	RCV000049899.1,

[PMID 18503012] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.