rs137854488

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5	Fibronectin glomerulopathy; end-stage kidney disease eventually possible

Make rs137854488(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

215406306

Gene

FN1

is a	snp
is	mentioned by
dbSNP	rs137854488
dbSNP (classic)	rs137854488
ClinGen	rs137854488
ebi	rs137854488
HLI	rs137854488
Exac	rs137854488
Gnomad	rs137854488
Varsome	rs137854488
LitVar	rs137854488
Map	rs137854488
PheGenI	rs137854488
Biobank	rs137854488
1000 genomes	rs137854488
hgdp	rs137854488
ensembl	rs137854488
geneview	rs137854488
scholar	rs137854488
google	rs137854488
pharmgkb	rs137854488
gwascentral	rs137854488
openSNP	rs137854488
23andMe	rs137854488
SNPshot	rs137854488
SNPdbe	rs137854488
MSV3d	rs137854488
GWAS Ctlg	rs137854488

Max Magnitude

5

aka c.2918A>G, p.Tyr973Cys and Y973C; autosomal dominant mutation associated with a form of glomerulopathy with fibronectin deposits (type 2); see also OMIM

OMIM	135600
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137854488(G;G)
Alt	rs137854488(G;G)
Reference	Rs137854488(A;A)
Significance	Pathogenic
Disease	Glomerulopathy with fibronectin deposits 2
Variation	info
Gene	FN1
CLNDBN	Glomerulopathy with fibronectin deposits 2
Reversed	1
HGVS	NC_000002.11:g.216271029T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017722.27,