rs104886151

Orientation

plus

Stabilized

plus

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

Make rs104886151(C;C)

Make rs104886151(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108601450

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886151
dbSNP (classic)	rs104886151
ClinGen	rs104886151
ebi	rs104886151
HLI	rs104886151
Exac	rs104886151
Gnomad	rs104886151
Varsome	rs104886151
LitVar	rs104886151
Map	rs104886151
PheGenI	rs104886151
Biobank	rs104886151
1000 genomes	rs104886151
hgdp	rs104886151
ensembl	rs104886151
geneview	rs104886151
scholar	rs104886151
google	rs104886151
pharmgkb	rs104886151
gwascentral	rs104886151
openSNP	rs104886151
23andMe	rs104886151
SNPshot	rs104886151
SNPdbe	rs104886151
MSV3d	rs104886151
GWAS Ctlg	rs104886151

Max Magnitude

0

ClinVar
Risk	rs104886151(C;C)
Alt	rs104886151(C;C)
Reference	Rs104886151(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107844680G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021351.1,

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

OMIM	301050
Desc
Variant
Related	also