rs104886392

Orientation

plus

Stabilized

plus

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

Make rs104886392(-;CC)

Make rs104886392(CC;CC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668424

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886392
dbSNP (classic)	rs104886392
ClinGen	rs104886392
ebi	rs104886392
HLI	rs104886392
Exac	rs104886392
Gnomad	rs104886392
Varsome	rs104886392
LitVar	rs104886392
Map	rs104886392
PheGenI	rs104886392
Biobank	rs104886392
1000 genomes	rs104886392
hgdp	rs104886392
ensembl	rs104886392
geneview	rs104886392
scholar	rs104886392
google	rs104886392
pharmgkb	rs104886392
gwascentral	rs104886392
openSNP	rs104886392
23andMe	rs104886392
SNPshot	rs104886392
SNPdbe	rs104886392
MSV3d	rs104886392
GWAS Ctlg	rs104886392

Max Magnitude

0

ClinVar
Risk	rs104886392(CC;CC)
Alt	rs104886392(CC;CC)
Reference	Rs104886392(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911653_107911654dupCC
CLNSRC	ClinVar
CLNACC	RCV000021554.1,

OMIM	301050
Desc
Variant
Related	also

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