rs104886354

Orientation

plus

Stabilized

plus

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

Make rs104886354(-;-)

Make rs104886354(-;AGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108620339

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886354
dbSNP (classic)	rs104886354
ClinGen	rs104886354
ebi	rs104886354
HLI	rs104886354
Exac	rs104886354
Gnomad	rs104886354
Varsome	rs104886354
LitVar	rs104886354
Map	rs104886354
PheGenI	rs104886354
Biobank	rs104886354
1000 genomes	rs104886354
hgdp	rs104886354
ensembl	rs104886354
geneview	rs104886354
scholar	rs104886354
google	rs104886354
pharmgkb	rs104886354
gwascentral	rs104886354
openSNP	rs104886354
23andMe	rs104886354
SNPshot	rs104886354
SNPdbe	rs104886354
MSV3d	rs104886354
GWAS Ctlg	rs104886354

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs104886354(AGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA;AGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107863569_107863604del36
CLNSRC
CLNACC

[PMID 10862091] Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.