rs28939695

Orientation

minus

Stabilized

minus

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

Make rs28939695(A;A)

Make rs28939695(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

35848142

Gene

NPHS1

is a	snp
is	mentioned by
dbSNP	rs28939695
dbSNP (classic)	rs28939695
ClinGen	rs28939695
ebi	rs28939695
HLI	rs28939695
Exac	rs28939695
Gnomad	rs28939695
Varsome	rs28939695
LitVar	rs28939695
Map	rs28939695
PheGenI	rs28939695
Biobank	rs28939695
1000 genomes	rs28939695
hgdp	rs28939695
ensembl	rs28939695
geneview	rs28939695
scholar	rs28939695
google	rs28939695
pharmgkb	rs28939695
gwascentral	rs28939695
openSNP	rs28939695
23andMe	rs28939695
SNPshot	rs28939695
SNPdbe	rs28939695
MSV3d	rs28939695
GWAS Ctlg	rs28939695

GMAF

0.0101

Max Magnitude

0

OMIM	602716
Desc	NEPHROSIS 1, CONGENITAL, FINNISH TYPE
Variant	0007
Related	also

ClinVar
Risk	rs28939695(A;A)
Alt	rs28939695(A;A)
Reference	Rs28939695(G;G)
Significance	Pathogenic
Disease	Finnish congenital nephrotic syndrome Proteinuria not specified
Variation	info
Gene	NPHS1
CLNDBN	Finnish congenital nephrotic syndrome Proteinuria not specified
Reversed	1
HGVS	NC_000019.9:g.36339044C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007275.2, RCV000157397.1, RCV000174106.1, RCV000490526.1,