rs104886059

Orientation

plus

Stabilized

plus

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

Make rs104886059(G;T)

Make rs104886059(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108575911

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886059
dbSNP (classic)	rs104886059
ClinGen	rs104886059
ebi	rs104886059
HLI	rs104886059
Exac	rs104886059
Gnomad	rs104886059
Varsome	rs104886059
LitVar	rs104886059
Map	rs104886059
PheGenI	rs104886059
Biobank	rs104886059
1000 genomes	rs104886059
hgdp	rs104886059
ensembl	rs104886059
geneview	rs104886059
scholar	rs104886059
google	rs104886059
pharmgkb	rs104886059
gwascentral	rs104886059
openSNP	rs104886059
23andMe	rs104886059
SNPshot	rs104886059
SNPdbe	rs104886059
MSV3d	rs104886059
GWAS Ctlg	rs104886059

Max Magnitude

0

ClinVar
Risk	rs104886059(T;T)
Alt	rs104886059(T;T)
Reference	Rs104886059(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107819141G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021167.1,

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

OMIM	301050
Desc
Variant
Related	also