rs104886164

Orientation

plus

Stabilized

plus

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

Make rs104886164(C;T)

Make rs104886164(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108603032

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886164
dbSNP (classic)	rs104886164
ClinGen	rs104886164
ebi	rs104886164
HLI	rs104886164
Exac	rs104886164
Gnomad	rs104886164
Varsome	rs104886164
LitVar	rs104886164
Map	rs104886164
PheGenI	rs104886164
Biobank	rs104886164
1000 genomes	rs104886164
hgdp	rs104886164
ensembl	rs104886164
geneview	rs104886164
scholar	rs104886164
google	rs104886164
pharmgkb	rs104886164
gwascentral	rs104886164
openSNP	rs104886164
23andMe	rs104886164
SNPshot	rs104886164
SNPdbe	rs104886164
MSV3d	rs104886164
GWAS Ctlg	rs104886164

GMAF

0.005441

Max Magnitude

0

ClinVar
Risk	rs104886164(G;G) rs104886164(T;T)
Alt	rs104886164(G;G) rs104886164(T;T)
Reference	Rs104886164(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107846262C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021375.1,

[PMID 10684360] Mutational analysis of COL4A5 gene in Korean Alport syndrome.