rs104886225

Orientation

plus

Stabilized

plus

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

Make rs104886225(A;A)

Make rs104886225(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108655403

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886225
dbSNP (classic)	rs104886225
ClinGen	rs104886225
ebi	rs104886225
HLI	rs104886225
Exac	rs104886225
Gnomad	rs104886225
Varsome	rs104886225
LitVar	rs104886225
Map	rs104886225
PheGenI	rs104886225
Biobank	rs104886225
1000 genomes	rs104886225
hgdp	rs104886225
ensembl	rs104886225
geneview	rs104886225
scholar	rs104886225
google	rs104886225
pharmgkb	rs104886225
gwascentral	rs104886225
openSNP	rs104886225
23andMe	rs104886225
SNPshot	rs104886225
SNPdbe	rs104886225
MSV3d	rs104886225
GWAS Ctlg	rs104886225

Max Magnitude

0

ClinVar
Risk	rs104886225(A;A)
Alt	rs104886225(A;A)
Reference	Rs104886225(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107898633G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021496.1,

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

OMIM	301050
Desc
Variant
Related	also