rs104886232

Orientation

plus

Stabilized

plus

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

Make rs104886232(A;A)

Make rs104886232(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108655341

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886232
dbSNP (classic)	rs104886232
ClinGen	rs104886232
ebi	rs104886232
HLI	rs104886232
Exac	rs104886232
Gnomad	rs104886232
Varsome	rs104886232
LitVar	rs104886232
Map	rs104886232
PheGenI	rs104886232
Biobank	rs104886232
1000 genomes	rs104886232
hgdp	rs104886232
ensembl	rs104886232
geneview	rs104886232
scholar	rs104886232
google	rs104886232
pharmgkb	rs104886232
gwascentral	rs104886232
openSNP	rs104886232
23andMe	rs104886232
SNPshot	rs104886232
SNPdbe	rs104886232
MSV3d	rs104886232
GWAS Ctlg	rs104886232

Max Magnitude

0

ClinVar
Risk	rs104886232(A;A)
Alt	rs104886232(A;A)
Reference	Rs104886232(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107898571G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021493.1,

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

OMIM	301050
Desc
Variant
Related	also