rs281874752

Orientation

plus

Stabilized

plus

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

Make rs281874752(A;G)

Make rs281874752(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108696295

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874752
dbSNP (classic)	rs281874752
ClinGen	rs281874752
ebi	rs281874752
HLI	rs281874752
Exac	rs281874752
Gnomad	rs281874752
Varsome	rs281874752
LitVar	rs281874752
Map	rs281874752
PheGenI	rs281874752
Biobank	rs281874752
1000 genomes	rs281874752
hgdp	rs281874752
ensembl	rs281874752
geneview	rs281874752
scholar	rs281874752
google	rs281874752
pharmgkb	rs281874752
gwascentral	rs281874752
openSNP	rs281874752
23andMe	rs281874752
SNPshot	rs281874752
SNPdbe	rs281874752
MSV3d	rs281874752
GWAS Ctlg	rs281874752

Max Magnitude

0

ClinVar
Risk	rs281874752(G;G)
Alt	rs281874752(G;G)
Reference	Rs281874752(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107939525A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021663.1,

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