rs281874670

Orientation

plus

Stabilized

plus

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

Make rs281874670(C;C)

Make rs281874670(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108595583

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874670
dbSNP (classic)	rs281874670
ClinGen	rs281874670
ebi	rs281874670
HLI	rs281874670
Exac	rs281874670
Gnomad	rs281874670
Varsome	rs281874670
LitVar	rs281874670
Map	rs281874670
PheGenI	rs281874670
Biobank	rs281874670
1000 genomes	rs281874670
hgdp	rs281874670
ensembl	rs281874670
geneview	rs281874670
scholar	rs281874670
google	rs281874670
pharmgkb	rs281874670
gwascentral	rs281874670
openSNP	rs281874670
23andMe	rs281874670
SNPshot	rs281874670
SNPdbe	rs281874670
MSV3d	rs281874670
GWAS Ctlg	rs281874670

Max Magnitude

0

ClinVar
Risk	rs281874670(C;C)
Alt	rs281874670(C;C)
Reference	Rs281874670(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107838813G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021298.1,

[PMID 19965530] Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.