rs281874672

Orientation

plus

Stabilized

plus

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

Make rs281874672(A;A)

Make rs281874672(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597387

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874672
dbSNP (classic)	rs281874672
ClinGen	rs281874672
ebi	rs281874672
HLI	rs281874672
Exac	rs281874672
Gnomad	rs281874672
Varsome	rs281874672
LitVar	rs281874672
Map	rs281874672
PheGenI	rs281874672
Biobank	rs281874672
1000 genomes	rs281874672
hgdp	rs281874672
ensembl	rs281874672
geneview	rs281874672
scholar	rs281874672
google	rs281874672
pharmgkb	rs281874672
gwascentral	rs281874672
openSNP	rs281874672
23andMe	rs281874672
SNPshot	rs281874672
SNPdbe	rs281874672
MSV3d	rs281874672
GWAS Ctlg	rs281874672

Max Magnitude

0

ClinVar
Risk	rs281874672(A;A)
Alt	rs281874672(A;A)
Reference	Rs281874672(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840617G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021307.1,

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