rs281874729

Orientation

plus

Stabilized

plus

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

Make rs281874729(-;-)

Make rs281874729(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108681865

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874729
dbSNP (classic)	rs281874729
ClinGen	rs281874729
ebi	rs281874729
HLI	rs281874729
Exac	rs281874729
Gnomad	rs281874729
Varsome	rs281874729
LitVar	rs281874729
Map	rs281874729
PheGenI	rs281874729
Biobank	rs281874729
1000 genomes	rs281874729
hgdp	rs281874729
ensembl	rs281874729
geneview	rs281874729
scholar	rs281874729
google	rs281874729
pharmgkb	rs281874729
gwascentral	rs281874729
openSNP	rs281874729
23andMe	rs281874729
SNPshot	rs281874729
SNPdbe	rs281874729
MSV3d	rs281874729
GWAS Ctlg	rs281874729

Merged from

Rs281874730

Max Magnitude

0

ClinVar
Risk	rs281874729(-;-)
Alt	rs281874729(-;-)
Reference	Rs281874729(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 19919694] Molecular testing for adult type Alport syndrome.