rs104886328

Orientation

plus

Stabilized

plus

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

Make rs104886328(-;C)

Make rs104886328(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591701

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886328
dbSNP (classic)	rs104886328
ClinGen	rs104886328
ebi	rs104886328
HLI	rs104886328
Exac	rs104886328
Gnomad	rs104886328
Varsome	rs104886328
LitVar	rs104886328
Map	rs104886328
PheGenI	rs104886328
Biobank	rs104886328
1000 genomes	rs104886328
hgdp	rs104886328
ensembl	rs104886328
geneview	rs104886328
scholar	rs104886328
google	rs104886328
pharmgkb	rs104886328
gwascentral	rs104886328
openSNP	rs104886328
23andMe	rs104886328
SNPshot	rs104886328
SNPdbe	rs104886328
MSV3d	rs104886328
GWAS Ctlg	rs104886328

Max Magnitude

0

ClinVar
Risk	rs104886328(C;C)
Alt	rs104886328(C;C)
Reference	Rs104886328(;)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834931dupC
CLNSRC
CLNACC

[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.