rs104886422

Orientation

plus

Stabilized

plus

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

Make rs104886422(-;-)

Make rs104886422(-;AGTCAGA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108694850

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886422
dbSNP (classic)	rs104886422
ClinGen	rs104886422
ebi	rs104886422
HLI	rs104886422
Exac	rs104886422
Gnomad	rs104886422
Varsome	rs104886422
LitVar	rs104886422
Map	rs104886422
PheGenI	rs104886422
Biobank	rs104886422
1000 genomes	rs104886422
hgdp	rs104886422
ensembl	rs104886422
geneview	rs104886422
scholar	rs104886422
google	rs104886422
pharmgkb	rs104886422
gwascentral	rs104886422
openSNP	rs104886422
23andMe	rs104886422
SNPshot	rs104886422
SNPdbe	rs104886422
MSV3d	rs104886422
GWAS Ctlg	rs104886422

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs104886422(AGTCAGA;AGTCAGA)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107938080_107938086delAGTCAGA
CLNSRC
CLNACC

[PMID 10094548] Detection of mutations in COL4A5 in patients with Alport syndrome.