rs281874730

Merged into

rs281874729

Orientation

plus

Stabilized

plus

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

Make rs281874730(-;-)

Make rs281874730(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108681867

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874730
dbSNP (classic)	rs281874730
ClinGen	rs281874730
ebi	rs281874730
HLI	rs281874730
Exac	rs281874730
Gnomad	rs281874730
Varsome	rs281874730
LitVar	rs281874730
Map	rs281874730
PheGenI	rs281874730
Biobank	rs281874730
1000 genomes	rs281874730
hgdp	rs281874730
ensembl	rs281874730
geneview	rs281874730
scholar	rs281874730
google	rs281874730
pharmgkb	rs281874730
gwascentral	rs281874730
openSNP	rs281874730
23andMe	rs281874730
SNPshot	rs281874730
SNPdbe	rs281874730
MSV3d	rs281874730
GWAS Ctlg	rs281874730

Status

Merged into rs281874729

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs281874730(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107925097delC
CLNSRC	ClinVar
CLNACC	RCV000021591.2,

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