rs281874706

Orientation

plus

Stabilized

plus

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

Make rs281874706(A;A)

Make rs281874706(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108568638

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874706
dbSNP (classic)	rs281874706
ClinGen	rs281874706
ebi	rs281874706
HLI	rs281874706
Exac	rs281874706
Gnomad	rs281874706
Varsome	rs281874706
LitVar	rs281874706
Map	rs281874706
PheGenI	rs281874706
Biobank	rs281874706
1000 genomes	rs281874706
hgdp	rs281874706
ensembl	rs281874706
geneview	rs281874706
scholar	rs281874706
google	rs281874706
pharmgkb	rs281874706
gwascentral	rs281874706
openSNP	rs281874706
23andMe	rs281874706
SNPshot	rs281874706
SNPdbe	rs281874706
MSV3d	rs281874706
GWAS Ctlg	rs281874706

Max Magnitude

0

ClinVar
Risk	rs281874706(A;A)
Alt	rs281874706(A;A)
Reference	Rs281874706(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107811868G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021136.1,

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