rs386833922

Orientation

minus

Stabilized

minus

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

Make rs386833922(CC;CC)

Make rs386833922(CC;TCA)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35842167

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs386833922
dbSNP (classic)	rs386833922
ClinGen	rs386833922
ebi	rs386833922
HLI	rs386833922
Exac	rs386833922
Gnomad	rs386833922
Varsome	rs386833922
LitVar	rs386833922
Map	rs386833922
PheGenI	rs386833922
Biobank	rs386833922
1000 genomes	rs386833922
hgdp	rs386833922
ensembl	rs386833922
geneview	rs386833922
scholar	rs386833922
google	rs386833922
pharmgkb	rs386833922
gwascentral	rs386833922
openSNP	rs386833922
23andMe	rs386833922
SNPshot	rs386833922
SNPdbe	rs386833922
MSV3d	rs386833922
GWAS Ctlg	rs386833922

Max Magnitude

0

ClinVar
Risk	rs386833922(CC;CC)
Alt	rs386833922(CC;CC)
Reference	Rs386833922(TCA;TCA)
Significance	Probable-Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36333069_36333071delTGAinsGG
CLNSRC	ClinVar
CLNACC	RCV000049896.1,

[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.