rs483352870

Orientation

plus

Stabilized

plus

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

Make rs483352870(C;C)

Make rs483352870(C;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

108677634

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs483352870
dbSNP (classic)	rs483352870
ClinGen	rs483352870
ebi	rs483352870
HLI	rs483352870
Exac	rs483352870
Gnomad	rs483352870
Varsome	rs483352870
LitVar	rs483352870
Map	rs483352870
PheGenI	rs483352870
Biobank	rs483352870
1000 genomes	rs483352870
hgdp	rs483352870
ensembl	rs483352870
geneview	rs483352870
scholar	rs483352870
google	rs483352870
pharmgkb	rs483352870
gwascentral	rs483352870
openSNP	rs483352870
23andMe	rs483352870
SNPshot	rs483352870
SNPdbe	rs483352870
MSV3d	rs483352870
GWAS Ctlg	rs483352870

Max Magnitude

0

ClinVar
Risk	rs483352870(C;C)
Alt	rs483352870(C;C)
Reference	Rs483352870(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107920864G>C
CLNSRC	ARUP COL4A5
CLNACC	RCV000021569.1,