rs281874676

Orientation

plus

Stabilized

plus

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

Make rs281874676(C;T)

Make rs281874676(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597527

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874676
dbSNP (classic)	rs281874676
ClinGen	rs281874676
ebi	rs281874676
HLI	rs281874676
Exac	rs281874676
Gnomad	rs281874676
Varsome	rs281874676
LitVar	rs281874676
Map	rs281874676
PheGenI	rs281874676
Biobank	rs281874676
1000 genomes	rs281874676
hgdp	rs281874676
ensembl	rs281874676
geneview	rs281874676
scholar	rs281874676
google	rs281874676
pharmgkb	rs281874676
gwascentral	rs281874676
openSNP	rs281874676
23andMe	rs281874676
SNPshot	rs281874676
SNPdbe	rs281874676
MSV3d	rs281874676
GWAS Ctlg	rs281874676

Max Magnitude

0

ClinVar
Risk	rs281874676(T;T)
Alt	rs281874676(T;T)
Reference	Rs281874676(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840757C>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021321.1,

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