rs281874720

Orientation

plus

Stabilized

plus

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

Make rs281874720(CCCCCAGGCCCTCCTGG;T)

Make rs281874720(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668420

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874720
dbSNP (classic)	rs281874720
ClinGen	rs281874720
ebi	rs281874720
HLI	rs281874720
Exac	rs281874720
Gnomad	rs281874720
Varsome	rs281874720
LitVar	rs281874720
Map	rs281874720
PheGenI	rs281874720
Biobank	rs281874720
1000 genomes	rs281874720
hgdp	rs281874720
ensembl	rs281874720
geneview	rs281874720
scholar	rs281874720
google	rs281874720
pharmgkb	rs281874720
gwascentral	rs281874720
openSNP	rs281874720
23andMe	rs281874720
SNPshot	rs281874720
SNPdbe	rs281874720
MSV3d	rs281874720
GWAS Ctlg	rs281874720

Max Magnitude

0

ClinVar
Risk	rs281874720(T;T)
Alt	rs281874720(T;T)
Reference	Rs281874720(CCCCCAGGCCCTCCTGG;CCCCCAGGCCCTCCTGG)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911650_107911666del17insT
CLNSRC	ClinVar
CLNACC	RCV000021552.1,

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