rs104886388

Orientation

plus

Stabilized

plus

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

Make rs104886388(A;G)

Make rs104886388(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108666487

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886388
dbSNP (classic)	rs104886388
ClinGen	rs104886388
ebi	rs104886388
HLI	rs104886388
Exac	rs104886388
Gnomad	rs104886388
Varsome	rs104886388
LitVar	rs104886388
Map	rs104886388
PheGenI	rs104886388
Biobank	rs104886388
1000 genomes	rs104886388
hgdp	rs104886388
ensembl	rs104886388
geneview	rs104886388
scholar	rs104886388
google	rs104886388
pharmgkb	rs104886388
gwascentral	rs104886388
openSNP	rs104886388
23andMe	rs104886388
SNPshot	rs104886388
SNPdbe	rs104886388
MSV3d	rs104886388
GWAS Ctlg	rs104886388

Max Magnitude

0

ClinVar
Risk	rs104886388(G;G)
Alt	rs104886388(G;G)
Reference	Rs104886388(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107909717A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021512.1,

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

OMIM	301050
Desc
Variant
Related	also