rs281874686

Orientation

plus

Stabilized

plus

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

Make rs281874686(C;C)

Make rs281874686(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108602972

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874686
dbSNP (classic)	rs281874686
ClinGen	rs281874686
ebi	rs281874686
HLI	rs281874686
Exac	rs281874686
Gnomad	rs281874686
Varsome	rs281874686
LitVar	rs281874686
Map	rs281874686
PheGenI	rs281874686
Biobank	rs281874686
1000 genomes	rs281874686
hgdp	rs281874686
ensembl	rs281874686
geneview	rs281874686
scholar	rs281874686
google	rs281874686
pharmgkb	rs281874686
gwascentral	rs281874686
openSNP	rs281874686
23andMe	rs281874686
SNPshot	rs281874686
SNPdbe	rs281874686
MSV3d	rs281874686
GWAS Ctlg	rs281874686

Max Magnitude

0

ClinVar
Risk	rs281874686(C;C)
Alt	rs281874686(C;C)
Reference	Rs281874686(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107846202G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021372.1,

[PMID 19919694] Molecular testing for adult type Alport syndrome.