rs281874761

Orientation

plus

Stabilized

plus

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

Make rs281874761(G;G)

Make rs281874761(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578097

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874761
dbSNP (classic)	rs281874761
ClinGen	rs281874761
ebi	rs281874761
HLI	rs281874761
Exac	rs281874761
Gnomad	rs281874761
Varsome	rs281874761
LitVar	rs281874761
Map	rs281874761
PheGenI	rs281874761
Biobank	rs281874761
1000 genomes	rs281874761
hgdp	rs281874761
ensembl	rs281874761
geneview	rs281874761
scholar	rs281874761
google	rs281874761
pharmgkb	rs281874761
gwascentral	rs281874761
openSNP	rs281874761
23andMe	rs281874761
SNPshot	rs281874761
SNPdbe	rs281874761
MSV3d	rs281874761
GWAS Ctlg	rs281874761

Max Magnitude

0

ClinVar
Risk	rs281874761(G;G)
Alt	rs281874761(G;G)
Reference	Rs281874761(T;T)
Significance	Pathogenic
Disease	Alport syndrome not provided
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive not provided
Reversed	0
HGVS	NC_000023.10:g.107821327T>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000032053.1, RCV000405636.1,

[PMID 20881942] Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.