rs730882194

Orientation

minus

Stabilized

minus

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

Make rs730882194(C;G)

Make rs730882194(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

10547597

Gene

EMP2

is a	snp
is	mentioned by
dbSNP	rs730882194
dbSNP (classic)	rs730882194
ClinGen	rs730882194
ebi	rs730882194
HLI	rs730882194
Exac	rs730882194
Gnomad	rs730882194
Varsome	rs730882194
LitVar	rs730882194
Map	rs730882194
PheGenI	rs730882194
Biobank	rs730882194
1000 genomes	rs730882194
hgdp	rs730882194
ensembl	rs730882194
geneview	rs730882194
scholar	rs730882194
google	rs730882194
pharmgkb	rs730882194
gwascentral	rs730882194
openSNP	rs730882194
23andMe	rs730882194
SNPshot	rs730882194
SNPdbe	rs730882194
MSV3d	rs730882194
GWAS Ctlg	rs730882194

Max Magnitude

0

ClinVar
Risk	rs730882194(G;G)
Alt	rs730882194(G;G)
Reference	Rs730882194(C;C)
Significance	Pathogenic
Disease	Nephrotic syndrome
Variation	info
Gene	EMP2
CLNDBN	Nephrotic syndrome, type 10
Reversed	1
HGVS	NC_000016.9:g.10641454G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000128431.4,