rs104886067

Orientation

plus

Stabilized

plus

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

Make rs104886067(A;A)

Make rs104886067(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578078

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886067
dbSNP (classic)	rs104886067
ClinGen	rs104886067
ebi	rs104886067
HLI	rs104886067
Exac	rs104886067
Gnomad	rs104886067
Varsome	rs104886067
LitVar	rs104886067
Map	rs104886067
PheGenI	rs104886067
Biobank	rs104886067
1000 genomes	rs104886067
hgdp	rs104886067
ensembl	rs104886067
geneview	rs104886067
scholar	rs104886067
google	rs104886067
pharmgkb	rs104886067
gwascentral	rs104886067
openSNP	rs104886067
23andMe	rs104886067
SNPshot	rs104886067
SNPdbe	rs104886067
MSV3d	rs104886067
GWAS Ctlg	rs104886067

Max Magnitude

0

ClinVar
Risk	rs104886067(A;A)
Alt	rs104886067(A;A)
Reference	Rs104886067(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107821308G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021185.1,

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

OMIM	301050
Desc
Variant
Related	also