rs104886093

Orientation

plus

Stabilized

plus

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

Make rs104886093(G;T)

Make rs104886093(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108584494

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886093
dbSNP (classic)	rs104886093
ClinGen	rs104886093
ebi	rs104886093
HLI	rs104886093
Exac	rs104886093
Gnomad	rs104886093
Varsome	rs104886093
LitVar	rs104886093
Map	rs104886093
PheGenI	rs104886093
Biobank	rs104886093
1000 genomes	rs104886093
hgdp	rs104886093
ensembl	rs104886093
geneview	rs104886093
scholar	rs104886093
google	rs104886093
pharmgkb	rs104886093
gwascentral	rs104886093
openSNP	rs104886093
23andMe	rs104886093
SNPshot	rs104886093
SNPdbe	rs104886093
MSV3d	rs104886093
GWAS Ctlg	rs104886093

Max Magnitude

0

ClinVar
Risk	rs104886093(T;T)
Alt	rs104886093(T;T)
Reference	Rs104886093(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107827724G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021234.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 18616531] MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.