rs281874769

Orientation

plus

Stabilized

plus

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

Make rs281874769(A;A)

Make rs281874769(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108582907

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874769
dbSNP (classic)	rs281874769
ClinGen	rs281874769
ebi	rs281874769
HLI	rs281874769
Exac	rs281874769
Gnomad	rs281874769
Varsome	rs281874769
LitVar	rs281874769
Map	rs281874769
PheGenI	rs281874769
Biobank	rs281874769
1000 genomes	rs281874769
hgdp	rs281874769
ensembl	rs281874769
geneview	rs281874769
scholar	rs281874769
google	rs281874769
pharmgkb	rs281874769
gwascentral	rs281874769
openSNP	rs281874769
23andMe	rs281874769
SNPshot	rs281874769
SNPdbe	rs281874769
MSV3d	rs281874769
GWAS Ctlg	rs281874769

Max Magnitude

0

ClinVar
Risk	rs281874769(A;A)
Alt	rs281874769(A;A)
Reference	Rs281874769(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107826137C>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021228.1,

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