rs104886432

Orientation

plus

Stabilized

plus

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

Make rs104886432(-;C)

Make rs104886432(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108575910

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886432
dbSNP (classic)	rs104886432
ClinGen	rs104886432
ebi	rs104886432
HLI	rs104886432
Exac	rs104886432
Gnomad	rs104886432
Varsome	rs104886432
LitVar	rs104886432
Map	rs104886432
PheGenI	rs104886432
Biobank	rs104886432
1000 genomes	rs104886432
hgdp	rs104886432
ensembl	rs104886432
geneview	rs104886432
scholar	rs104886432
google	rs104886432
pharmgkb	rs104886432
gwascentral	rs104886432
openSNP	rs104886432
23andMe	rs104886432
SNPshot	rs104886432
SNPdbe	rs104886432
MSV3d	rs104886432
GWAS Ctlg	rs104886432

Max Magnitude

0

ClinVar
Risk	rs104886432(C;C) Rs104886432(G;G)
Alt	rs104886432(C;C) Rs104886432(G;G)
Reference	Rs104886432(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107819140dupG
CLNSRC	ClinVar
CLNACC	RCV000021166.1,

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.