rs281874724

Orientation

plus

Stabilized

plus

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

Make rs281874724(C;C)

Make rs281874724(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108677633

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874724
dbSNP (classic)	rs281874724
ClinGen	rs281874724
ebi	rs281874724
HLI	rs281874724
Exac	rs281874724
Gnomad	rs281874724
Varsome	rs281874724
LitVar	rs281874724
Map	rs281874724
PheGenI	rs281874724
Biobank	rs281874724
1000 genomes	rs281874724
hgdp	rs281874724
ensembl	rs281874724
geneview	rs281874724
scholar	rs281874724
google	rs281874724
pharmgkb	rs281874724
gwascentral	rs281874724
openSNP	rs281874724
23andMe	rs281874724
SNPshot	rs281874724
SNPdbe	rs281874724
MSV3d	rs281874724
GWAS Ctlg	rs281874724

Max Magnitude

0

ClinVar
Risk	rs281874724(C;C)
Alt	rs281874724(C;C)
Reference	Rs281874724(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107920863G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021568.1,

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