rs281874669

Orientation

plus

Stabilized

plus

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

Make rs281874669(A;A)

Make rs281874669(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108559064

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874669
dbSNP (classic)	rs281874669
ClinGen	rs281874669
ebi	rs281874669
HLI	rs281874669
Exac	rs281874669
Gnomad	rs281874669
Varsome	rs281874669
LitVar	rs281874669
Map	rs281874669
PheGenI	rs281874669
Biobank	rs281874669
1000 genomes	rs281874669
hgdp	rs281874669
ensembl	rs281874669
geneview	rs281874669
scholar	rs281874669
google	rs281874669
pharmgkb	rs281874669
gwascentral	rs281874669
openSNP	rs281874669
23andMe	rs281874669
SNPshot	rs281874669
SNPdbe	rs281874669
MSV3d	rs281874669
GWAS Ctlg	rs281874669

Max Magnitude

0

ClinVar
Risk	rs281874669(A;A)
Alt	rs281874669(A;A)
Reference	Rs281874669(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107802294G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021122.1,

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