rs104886126

Orientation

plus

Stabilized

plus

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

Make rs104886126(C;C)

Make rs104886126(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597422

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886126
dbSNP (classic)	rs104886126
ClinGen	rs104886126
ebi	rs104886126
HLI	rs104886126
Exac	rs104886126
Gnomad	rs104886126
Varsome	rs104886126
LitVar	rs104886126
Map	rs104886126
PheGenI	rs104886126
Biobank	rs104886126
1000 genomes	rs104886126
hgdp	rs104886126
ensembl	rs104886126
geneview	rs104886126
scholar	rs104886126
google	rs104886126
pharmgkb	rs104886126
gwascentral	rs104886126
openSNP	rs104886126
23andMe	rs104886126
SNPshot	rs104886126
SNPdbe	rs104886126
MSV3d	rs104886126
GWAS Ctlg	rs104886126

Max Magnitude

0

ClinVar
Risk	rs104886126(C;C)
Alt	rs104886126(C;C)
Reference	Rs104886126(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840652G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021309.1,

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

OMIM	301050
Desc
Variant
Related	also