rs281874657

Orientation

plus

Stabilized

plus

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

Make rs281874657(C;T)

Make rs281874657(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108586717

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs281874657
dbSNP (classic)	rs281874657
ClinGen	rs281874657
ebi	rs281874657
HLI	rs281874657
Exac	rs281874657
Gnomad	rs281874657
Varsome	rs281874657
LitVar	rs281874657
Map	rs281874657
PheGenI	rs281874657
Biobank	rs281874657
1000 genomes	rs281874657
hgdp	rs281874657
ensembl	rs281874657
geneview	rs281874657
scholar	rs281874657
google	rs281874657
pharmgkb	rs281874657
gwascentral	rs281874657
openSNP	rs281874657
23andMe	rs281874657
SNPshot	rs281874657
SNPdbe	rs281874657
MSV3d	rs281874657
GWAS Ctlg	rs281874657

Max Magnitude

0

ClinVar
Risk	rs281874657(T;T)
Alt	rs281874657(T;T)
Reference	Rs281874657(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107829947C>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000032056.1,

[PMID 21848006] Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.