rs104886091

Orientation

plus

Stabilized

plus

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

Make rs104886091(A;A)

Make rs104886091(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108582921

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886091
dbSNP (classic)	rs104886091
ClinGen	rs104886091
ebi	rs104886091
HLI	rs104886091
Exac	rs104886091
Gnomad	rs104886091
Varsome	rs104886091
LitVar	rs104886091
Map	rs104886091
PheGenI	rs104886091
Biobank	rs104886091
1000 genomes	rs104886091
hgdp	rs104886091
ensembl	rs104886091
geneview	rs104886091
scholar	rs104886091
google	rs104886091
pharmgkb	rs104886091
gwascentral	rs104886091
openSNP	rs104886091
23andMe	rs104886091
SNPshot	rs104886091
SNPdbe	rs104886091
MSV3d	rs104886091
GWAS Ctlg	rs104886091

Max Magnitude

0

OMIM	303630
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104886091(A;A)
Alt	rs104886091(A;A)
Reference	Rs104886091(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107826151G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011209.3,

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