rs104886058

Orientation

plus

Stabilized

plus

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

Make rs104886058(-;-)

Make rs104886058(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108573641

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886058
dbSNP (classic)	rs104886058
ClinGen	rs104886058
ebi	rs104886058
HLI	rs104886058
Exac	rs104886058
Gnomad	rs104886058
Varsome	rs104886058
LitVar	rs104886058
Map	rs104886058
PheGenI	rs104886058
Biobank	rs104886058
1000 genomes	rs104886058
hgdp	rs104886058
ensembl	rs104886058
geneview	rs104886058
scholar	rs104886058
google	rs104886058
pharmgkb	rs104886058
gwascentral	rs104886058
openSNP	rs104886058
23andMe	rs104886058
SNPshot	rs104886058
SNPdbe	rs104886058
MSV3d	rs104886058
GWAS Ctlg	rs104886058

Max Magnitude

0

ClinVar
Risk	rs104886058(-;-)
Alt	rs104886058(-;-)
Reference	Rs104886058(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107816871delC
CLNSRC	ClinVar
CLNACC	RCV000021159.1,

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM	301050
Desc
Variant
Related	also