rs104886190

Orientation

plus

Stabilized

plus

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

Make rs104886190(C;C)

Make rs104886190(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620363

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886190
dbSNP (classic)	rs104886190
ClinGen	rs104886190
ebi	rs104886190
HLI	rs104886190
Exac	rs104886190
Gnomad	rs104886190
Varsome	rs104886190
LitVar	rs104886190
Map	rs104886190
PheGenI	rs104886190
Biobank	rs104886190
1000 genomes	rs104886190
hgdp	rs104886190
ensembl	rs104886190
geneview	rs104886190
scholar	rs104886190
google	rs104886190
pharmgkb	rs104886190
gwascentral	rs104886190
openSNP	rs104886190
23andMe	rs104886190
SNPshot	rs104886190
SNPdbe	rs104886190
MSV3d	rs104886190
GWAS Ctlg	rs104886190

Max Magnitude

0

ClinVar
Risk	rs104886190(C;C)
Alt	rs104886190(C;C)
Reference	Rs104886190(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863593G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021423.1,

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

OMIM	301050
Desc
Variant
Related	also