rs281874737

Orientation

plus

Stabilized

plus

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

Make rs281874737(A;A)

Make rs281874737(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108571459

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874737
dbSNP (classic)	rs281874737
ClinGen	rs281874737
ebi	rs281874737
HLI	rs281874737
Exac	rs281874737
Gnomad	rs281874737
Varsome	rs281874737
LitVar	rs281874737
Map	rs281874737
PheGenI	rs281874737
Biobank	rs281874737
1000 genomes	rs281874737
hgdp	rs281874737
ensembl	rs281874737
geneview	rs281874737
scholar	rs281874737
google	rs281874737
pharmgkb	rs281874737
gwascentral	rs281874737
openSNP	rs281874737
23andMe	rs281874737
SNPshot	rs281874737
SNPdbe	rs281874737
MSV3d	rs281874737
GWAS Ctlg	rs281874737

Max Magnitude

0

ClinVar
Risk	rs281874737(A;A)
Alt	rs281874737(A;A)
Reference	Rs281874737(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107814689G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021148.1,

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