rs281874697

Orientation

plus

Stabilized

plus

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

Make rs281874697(C;C)

Make rs281874697(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620327

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874697
dbSNP (classic)	rs281874697
ClinGen	rs281874697
ebi	rs281874697
HLI	rs281874697
Exac	rs281874697
Gnomad	rs281874697
Varsome	rs281874697
LitVar	rs281874697
Map	rs281874697
PheGenI	rs281874697
Biobank	rs281874697
1000 genomes	rs281874697
hgdp	rs281874697
ensembl	rs281874697
geneview	rs281874697
scholar	rs281874697
google	rs281874697
pharmgkb	rs281874697
gwascentral	rs281874697
openSNP	rs281874697
23andMe	rs281874697
SNPshot	rs281874697
SNPdbe	rs281874697
MSV3d	rs281874697
GWAS Ctlg	rs281874697

Max Magnitude

0

ClinVar
Risk	rs281874697(C;C)
Alt	rs281874697(C;C)
Reference	Rs281874697(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863557G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021417.1,

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