rs281874763

Orientation

plus

Stabilized

plus

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

Make rs281874763(A;A)

Make rs281874763(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578292

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874763
dbSNP (classic)	rs281874763
ClinGen	rs281874763
ebi	rs281874763
HLI	rs281874763
Exac	rs281874763
Gnomad	rs281874763
Varsome	rs281874763
LitVar	rs281874763
Map	rs281874763
PheGenI	rs281874763
Biobank	rs281874763
1000 genomes	rs281874763
hgdp	rs281874763
ensembl	rs281874763
geneview	rs281874763
scholar	rs281874763
google	rs281874763
pharmgkb	rs281874763
gwascentral	rs281874763
openSNP	rs281874763
23andMe	rs281874763
SNPshot	rs281874763
SNPdbe	rs281874763
MSV3d	rs281874763
GWAS Ctlg	rs281874763

Max Magnitude

0

ClinVar
Risk	rs281874763(A;A)
Alt	rs281874763(A;A)
Reference	Rs281874763(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107821522G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021194.1,

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