rs104886313

Orientation

plus

Stabilized

plus

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

Make rs104886313(A;A)

Make rs104886313(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597069

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886313
dbSNP (classic)	rs104886313
ClinGen	rs104886313
ebi	rs104886313
HLI	rs104886313
Exac	rs104886313
Gnomad	rs104886313
Varsome	rs104886313
LitVar	rs104886313
Map	rs104886313
PheGenI	rs104886313
Biobank	rs104886313
1000 genomes	rs104886313
hgdp	rs104886313
ensembl	rs104886313
geneview	rs104886313
scholar	rs104886313
google	rs104886313
pharmgkb	rs104886313
gwascentral	rs104886313
openSNP	rs104886313
23andMe	rs104886313
SNPshot	rs104886313
SNPdbe	rs104886313
MSV3d	rs104886313
GWAS Ctlg	rs104886313

Max Magnitude

0

ClinVar
Risk	rs104886313(A;A)
Alt	rs104886313(A;A)
Reference	Rs104886313(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840299G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021306.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

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