rs281874674

Orientation

plus

Stabilized

plus

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

Make rs281874674(G;T)

Make rs281874674(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597479

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874674
dbSNP (classic)	rs281874674
ClinGen	rs281874674
ebi	rs281874674
HLI	rs281874674
Exac	rs281874674
Gnomad	rs281874674
Varsome	rs281874674
LitVar	rs281874674
Map	rs281874674
PheGenI	rs281874674
Biobank	rs281874674
1000 genomes	rs281874674
hgdp	rs281874674
ensembl	rs281874674
geneview	rs281874674
scholar	rs281874674
google	rs281874674
pharmgkb	rs281874674
gwascentral	rs281874674
openSNP	rs281874674
23andMe	rs281874674
SNPshot	rs281874674
SNPdbe	rs281874674
MSV3d	rs281874674
GWAS Ctlg	rs281874674

Max Magnitude

0

ClinVar
Risk	rs281874674(C;C) rs281874674(T;T)
Alt	rs281874674(C;C) rs281874674(T;T)
Reference	Rs281874674(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840709G>C; NC_000023.10:g.107840709G>T
CLNSRC	Dhiti Omics Technologies Pvt. Ltd. ARUP COL4A5
CLNACC	RCV000233994.1, RCV000021315.1,

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

[PMID 19965532] Ultrasound-guided femoral dialysis access placement: a single-center randomized trial.