rs104886357

Orientation

plus

Stabilized

plus

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

Make rs104886357(G;G)

Make rs104886357(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620249

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886357
dbSNP (classic)	rs104886357
ClinGen	rs104886357
ebi	rs104886357
HLI	rs104886357
Exac	rs104886357
Gnomad	rs104886357
Varsome	rs104886357
LitVar	rs104886357
Map	rs104886357
PheGenI	rs104886357
Biobank	rs104886357
1000 genomes	rs104886357
hgdp	rs104886357
ensembl	rs104886357
geneview	rs104886357
scholar	rs104886357
google	rs104886357
pharmgkb	rs104886357
gwascentral	rs104886357
openSNP	rs104886357
23andMe	rs104886357
SNPshot	rs104886357
SNPdbe	rs104886357
MSV3d	rs104886357
GWAS Ctlg	rs104886357

Max Magnitude

0

ClinVar
Risk	rs104886357(G;G)
Alt	rs104886357(G;G)
Reference	Rs104886357(T;T)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863479T>G
CLNSRC
CLNACC

[PMID 12436246] Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.