rs104886147

Orientation

plus

Stabilized

plus

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

Make rs104886147(A;A)

Make rs104886147(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108598834

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886147
dbSNP (classic)	rs104886147
ClinGen	rs104886147
ebi	rs104886147
HLI	rs104886147
Exac	rs104886147
Gnomad	rs104886147
Varsome	rs104886147
LitVar	rs104886147
Map	rs104886147
PheGenI	rs104886147
Biobank	rs104886147
1000 genomes	rs104886147
hgdp	rs104886147
ensembl	rs104886147
geneview	rs104886147
scholar	rs104886147
google	rs104886147
pharmgkb	rs104886147
gwascentral	rs104886147
openSNP	rs104886147
23andMe	rs104886147
SNPshot	rs104886147
SNPdbe	rs104886147
MSV3d	rs104886147
GWAS Ctlg	rs104886147

Max Magnitude

0

ClinVar
Risk	rs104886147(A;A)
Alt	rs104886147(A;A)
Reference	Rs104886147(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107842064G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021340.1,

OMIM	301050
Desc
Variant
Related	also

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