rs104886259

Orientation

plus

Stabilized

plus

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

Make rs104886259(-;-)

Make rs104886259(-;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108677629

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886259
dbSNP (classic)	rs104886259
ClinGen	rs104886259
ebi	rs104886259
HLI	rs104886259
Exac	rs104886259
Gnomad	rs104886259
Varsome	rs104886259
LitVar	rs104886259
Map	rs104886259
PheGenI	rs104886259
Biobank	rs104886259
1000 genomes	rs104886259
hgdp	rs104886259
ensembl	rs104886259
geneview	rs104886259
scholar	rs104886259
google	rs104886259
pharmgkb	rs104886259
gwascentral	rs104886259
openSNP	rs104886259
23andMe	rs104886259
SNPshot	rs104886259
SNPdbe	rs104886259
MSV3d	rs104886259
GWAS Ctlg	rs104886259

Max Magnitude

0

ClinVar
Risk	rs104886259(-;-)
Alt	rs104886259(-;-)
Reference	Rs104886259(T;T)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107920859delT
CLNSRC	ClinVar
CLNACC	RCV000021567.1,

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

OMIM	301050
Desc
Variant
Related	also