rs104886437

Orientation

plus

Stabilized

plus

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

Make rs104886437(A;A)

Make rs104886437(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578075

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886437
dbSNP (classic)	rs104886437
ClinGen	rs104886437
ebi	rs104886437
HLI	rs104886437
Exac	rs104886437
Gnomad	rs104886437
Varsome	rs104886437
LitVar	rs104886437
Map	rs104886437
PheGenI	rs104886437
Biobank	rs104886437
1000 genomes	rs104886437
hgdp	rs104886437
ensembl	rs104886437
geneview	rs104886437
scholar	rs104886437
google	rs104886437
pharmgkb	rs104886437
gwascentral	rs104886437
openSNP	rs104886437
23andMe	rs104886437
SNPshot	rs104886437
SNPdbe	rs104886437
MSV3d	rs104886437
GWAS Ctlg	rs104886437

Max Magnitude

0

ClinVar
Risk	rs104886437(A;A)
Alt	rs104886437(A;A)
Reference	Rs104886437(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107821305C>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021184.1,

OMIM	301050
Desc
Variant
Related	also

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