rs281874742

Orientation

plus

Stabilized

plus

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

Make rs281874742(-;-)

Make rs281874742(-;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108692750

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874742
dbSNP (classic)	rs281874742
ClinGen	rs281874742
ebi	rs281874742
HLI	rs281874742
Exac	rs281874742
Gnomad	rs281874742
Varsome	rs281874742
LitVar	rs281874742
Map	rs281874742
PheGenI	rs281874742
Biobank	rs281874742
1000 genomes	rs281874742
hgdp	rs281874742
ensembl	rs281874742
geneview	rs281874742
scholar	rs281874742
google	rs281874742
pharmgkb	rs281874742
gwascentral	rs281874742
openSNP	rs281874742
23andMe	rs281874742
SNPshot	rs281874742
SNPdbe	rs281874742
MSV3d	rs281874742
GWAS Ctlg	rs281874742

Max Magnitude

0

ClinVar
Risk	rs281874742(-;-)
Alt	rs281874742(-;-)
Reference	Rs281874742(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107935980delA
CLNSRC	ClinVar
CLNACC	RCV000021625.1,

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