rs281874713

Orientation

plus

Stabilized

plus

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

Make rs281874713(G;T)

Make rs281874713(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108655431

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874713
dbSNP (classic)	rs281874713
ClinGen	rs281874713
ebi	rs281874713
HLI	rs281874713
Exac	rs281874713
Gnomad	rs281874713
Varsome	rs281874713
LitVar	rs281874713
Map	rs281874713
PheGenI	rs281874713
Biobank	rs281874713
1000 genomes	rs281874713
hgdp	rs281874713
ensembl	rs281874713
geneview	rs281874713
scholar	rs281874713
google	rs281874713
pharmgkb	rs281874713
gwascentral	rs281874713
openSNP	rs281874713
23andMe	rs281874713
SNPshot	rs281874713
SNPdbe	rs281874713
MSV3d	rs281874713
GWAS Ctlg	rs281874713

Max Magnitude

0

ClinVar
Risk	rs281874713(T;T)
Alt	rs281874713(T;T)
Reference	Rs281874713(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107898661G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021500.1,

[PMID 20378821] Genotype-phenotype correlation in X-linked Alport syndrome.