rs104886415

Orientation

plus

Stabilized

plus

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

Make rs104886415(G;G)

Make rs104886415(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108573557

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886415
dbSNP (classic)	rs104886415
ClinGen	rs104886415
ebi	rs104886415
HLI	rs104886415
Exac	rs104886415
Gnomad	rs104886415
Varsome	rs104886415
LitVar	rs104886415
Map	rs104886415
PheGenI	rs104886415
Biobank	rs104886415
1000 genomes	rs104886415
hgdp	rs104886415
ensembl	rs104886415
geneview	rs104886415
scholar	rs104886415
google	rs104886415
pharmgkb	rs104886415
gwascentral	rs104886415
openSNP	rs104886415
23andMe	rs104886415
SNPshot	rs104886415
SNPdbe	rs104886415
MSV3d	rs104886415
GWAS Ctlg	rs104886415

Max Magnitude

0

ClinVar
Risk	rs104886415(G;G)
Alt	rs104886415(G;G)
Reference	Rs104886415(T;T)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107816787T>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021153.1,

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

OMIM	301050
Desc
Variant
Related	also