rs137853042

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a congenital nephrotic syndrome mutation

Make rs137853042(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35831358

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs137853042
dbSNP (classic)	rs137853042
ClinGen	rs137853042
ebi	rs137853042
HLI	rs137853042
Exac	rs137853042
Gnomad	rs137853042
Varsome	rs137853042
LitVar	rs137853042
Map	rs137853042
PheGenI	rs137853042
Biobank	rs137853042
1000 genomes	rs137853042
hgdp	rs137853042
ensembl	rs137853042
geneview	rs137853042
scholar	rs137853042
google	rs137853042
pharmgkb	rs137853042
gwascentral	rs137853042
openSNP	rs137853042
23andMe	rs137853042
SNPshot	rs137853042
SNPdbe	rs137853042
MSV3d	rs137853042
GWAS Ctlg	rs137853042

Max Magnitude

3

aka c.3325C>T (p.Arg1109Ter or R1109X)

OMIM	602716
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853042(T;T)
Alt	rs137853042(T;T)
Reference	Rs137853042(C;C)
Significance	Pathogenic
Disease	Finnish congenital nephrotic syndrome
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome
Reversed	1
HGVS	NC_000019.9:g.36322260G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007270.2,