rs104886103

Orientation

plus

Stabilized

plus

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

Make rs104886103(A;A)

Make rs104886103(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591135

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886103
dbSNP (classic)	rs104886103
ClinGen	rs104886103
ebi	rs104886103
HLI	rs104886103
Exac	rs104886103
Gnomad	rs104886103
Varsome	rs104886103
LitVar	rs104886103
Map	rs104886103
PheGenI	rs104886103
Biobank	rs104886103
1000 genomes	rs104886103
hgdp	rs104886103
ensembl	rs104886103
geneview	rs104886103
scholar	rs104886103
google	rs104886103
pharmgkb	rs104886103
gwascentral	rs104886103
openSNP	rs104886103
23andMe	rs104886103
SNPshot	rs104886103
SNPdbe	rs104886103
MSV3d	rs104886103
GWAS Ctlg	rs104886103

Max Magnitude

0

ClinVar
Risk	rs104886103(A;A)
Alt	rs104886103(A;A)
Reference	Rs104886103(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834365G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021267.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.