rs281874722

Orientation

plus

Stabilized

plus

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

Make rs281874722(A;A)

Make rs281874722(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108571413

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874722
dbSNP (classic)	rs281874722
ClinGen	rs281874722
ebi	rs281874722
HLI	rs281874722
Exac	rs281874722
Gnomad	rs281874722
Varsome	rs281874722
LitVar	rs281874722
Map	rs281874722
PheGenI	rs281874722
Biobank	rs281874722
1000 genomes	rs281874722
hgdp	rs281874722
ensembl	rs281874722
geneview	rs281874722
scholar	rs281874722
google	rs281874722
pharmgkb	rs281874722
gwascentral	rs281874722
openSNP	rs281874722
23andMe	rs281874722
SNPshot	rs281874722
SNPdbe	rs281874722
MSV3d	rs281874722
GWAS Ctlg	rs281874722

Max Magnitude

0

ClinVar
Risk	rs281874722(A;A)
Alt	rs281874722(A;A)
Reference	Rs281874722(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107814643G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021143.1,

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