rs281874684

Orientation

plus

Stabilized

plus

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

Make rs281874684(C;C)

Make rs281874684(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108601449

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874684
dbSNP (classic)	rs281874684
ClinGen	rs281874684
ebi	rs281874684
HLI	rs281874684
Exac	rs281874684
Gnomad	rs281874684
Varsome	rs281874684
LitVar	rs281874684
Map	rs281874684
PheGenI	rs281874684
Biobank	rs281874684
1000 genomes	rs281874684
hgdp	rs281874684
ensembl	rs281874684
geneview	rs281874684
scholar	rs281874684
google	rs281874684
pharmgkb	rs281874684
gwascentral	rs281874684
openSNP	rs281874684
23andMe	rs281874684
SNPshot	rs281874684
SNPdbe	rs281874684
MSV3d	rs281874684
GWAS Ctlg	rs281874684

Max Magnitude

0

ClinVar
Risk	rs281874684(C;C)
Alt	rs281874684(C;C)
Reference	Rs281874684(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107844679G>C
CLNSRC	ClinVar
CLNACC	RCV000021350.1,

[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.