rs104886055

Orientation

plus

Stabilized

plus

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

Make rs104886055(C;C)

Make rs104886055(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108573628

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886055
dbSNP (classic)	rs104886055
ClinGen	rs104886055
ebi	rs104886055
HLI	rs104886055
Exac	rs104886055
Gnomad	rs104886055
Varsome	rs104886055
LitVar	rs104886055
Map	rs104886055
PheGenI	rs104886055
Biobank	rs104886055
1000 genomes	rs104886055
hgdp	rs104886055
ensembl	rs104886055
geneview	rs104886055
scholar	rs104886055
google	rs104886055
pharmgkb	rs104886055
gwascentral	rs104886055
openSNP	rs104886055
23andMe	rs104886055
SNPshot	rs104886055
SNPdbe	rs104886055
MSV3d	rs104886055
GWAS Ctlg	rs104886055

Max Magnitude

0

OMIM	301050
Desc
Variant
Related	also

ClinVar
Risk	rs104886055(C;C)
Alt	rs104886055(C;C)
Reference	Rs104886055(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107816858G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021156.1,

[PMID 8651296] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.