rs104886416

Orientation

plus

Stabilized

plus

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

Make rs104886416(A;G)

Make rs104886416(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108573572

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886416
dbSNP (classic)	rs104886416
ClinGen	rs104886416
ebi	rs104886416
HLI	rs104886416
Exac	rs104886416
Gnomad	rs104886416
Varsome	rs104886416
LitVar	rs104886416
Map	rs104886416
PheGenI	rs104886416
Biobank	rs104886416
1000 genomes	rs104886416
hgdp	rs104886416
ensembl	rs104886416
geneview	rs104886416
scholar	rs104886416
google	rs104886416
pharmgkb	rs104886416
gwascentral	rs104886416
openSNP	rs104886416
23andMe	rs104886416
SNPshot	rs104886416
SNPdbe	rs104886416
MSV3d	rs104886416
GWAS Ctlg	rs104886416

Max Magnitude

0

ClinVar
Risk	rs104886416(G;G)
Alt	rs104886416(G;G)
Reference	Rs104886416(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107816802A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021155.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.