rs104886386

Orientation

plus

Stabilized

plus

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

Make rs104886386(-;-)

Make rs104886386(-;TGGA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108668332

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886386
dbSNP (classic)	rs104886386
ClinGen	rs104886386
ebi	rs104886386
HLI	rs104886386
Exac	rs104886386
Gnomad	rs104886386
Varsome	rs104886386
LitVar	rs104886386
Map	rs104886386
PheGenI	rs104886386
Biobank	rs104886386
1000 genomes	rs104886386
hgdp	rs104886386
ensembl	rs104886386
geneview	rs104886386
scholar	rs104886386
google	rs104886386
pharmgkb	rs104886386
gwascentral	rs104886386
openSNP	rs104886386
23andMe	rs104886386
SNPshot	rs104886386
SNPdbe	rs104886386
MSV3d	rs104886386
GWAS Ctlg	rs104886386

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs104886386(TGGA;TGGA)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107911562_107911565delTGGA
CLNSRC
CLNACC

[PMID 8651296] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.