rs104886166

Orientation

plus

Stabilized

plus

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

Make rs104886166(A;A)

Make rs104886166(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108603045

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886166
dbSNP (classic)	rs104886166
ClinGen	rs104886166
ebi	rs104886166
HLI	rs104886166
Exac	rs104886166
Gnomad	rs104886166
Varsome	rs104886166
LitVar	rs104886166
Map	rs104886166
PheGenI	rs104886166
Biobank	rs104886166
1000 genomes	rs104886166
hgdp	rs104886166
ensembl	rs104886166
geneview	rs104886166
scholar	rs104886166
google	rs104886166
pharmgkb	rs104886166
gwascentral	rs104886166
openSNP	rs104886166
23andMe	rs104886166
SNPshot	rs104886166
SNPdbe	rs104886166
MSV3d	rs104886166
GWAS Ctlg	rs104886166

Max Magnitude

0

ClinVar
Risk	rs104886166(A;A)
Alt	rs104886166(A;A)
Reference	Rs104886166(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107846275G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021377.1,

OMIM	301050
Desc
Variant
Related	also

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