rs104886373

Orientation

plus

Stabilized

plus

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

Make rs104886373(-;-)

Make rs104886373(-;AG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108624246

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886373
dbSNP (classic)	rs104886373
ClinGen	rs104886373
ebi	rs104886373
HLI	rs104886373
Exac	rs104886373
Gnomad	rs104886373
Varsome	rs104886373
LitVar	rs104886373
Map	rs104886373
PheGenI	rs104886373
Biobank	rs104886373
1000 genomes	rs104886373
hgdp	rs104886373
ensembl	rs104886373
geneview	rs104886373
scholar	rs104886373
google	rs104886373
pharmgkb	rs104886373
gwascentral	rs104886373
openSNP	rs104886373
23andMe	rs104886373
SNPshot	rs104886373
SNPdbe	rs104886373
MSV3d	rs104886373
GWAS Ctlg	rs104886373

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs104886373(AG;AG)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107867476_107867477delAG
CLNSRC
CLNACC

[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.