rs104886107

Orientation

plus

Stabilized

plus

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

Make rs104886107(A;A)

Make rs104886107(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591091

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886107
dbSNP (classic)	rs104886107
ClinGen	rs104886107
ebi	rs104886107
HLI	rs104886107
Exac	rs104886107
Gnomad	rs104886107
Varsome	rs104886107
LitVar	rs104886107
Map	rs104886107
PheGenI	rs104886107
Biobank	rs104886107
1000 genomes	rs104886107
hgdp	rs104886107
ensembl	rs104886107
geneview	rs104886107
scholar	rs104886107
google	rs104886107
pharmgkb	rs104886107
gwascentral	rs104886107
openSNP	rs104886107
23andMe	rs104886107
SNPshot	rs104886107
SNPdbe	rs104886107
MSV3d	rs104886107
GWAS Ctlg	rs104886107

Max Magnitude

0

ClinVar
Risk	rs104886107(A;A)
Alt	rs104886107(A;A)
Reference	Rs104886107(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834321G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021257.1,

OMIM	301050
Desc
Variant
Related	also

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