rs104886374

Orientation

plus

Stabilized

plus

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

Make rs104886374(-;-)

Make rs104886374(-;CCTGGAGACCCAGGGCAA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108624277

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886374
dbSNP (classic)	rs104886374
ClinGen	rs104886374
ebi	rs104886374
HLI	rs104886374
Exac	rs104886374
Gnomad	rs104886374
Varsome	rs104886374
LitVar	rs104886374
Map	rs104886374
PheGenI	rs104886374
Biobank	rs104886374
1000 genomes	rs104886374
hgdp	rs104886374
ensembl	rs104886374
geneview	rs104886374
scholar	rs104886374
google	rs104886374
pharmgkb	rs104886374
gwascentral	rs104886374
openSNP	rs104886374
23andMe	rs104886374
SNPshot	rs104886374
SNPdbe	rs104886374
MSV3d	rs104886374
GWAS Ctlg	rs104886374

Max Magnitude

0

ClinVar
Risk	rs104886374(-;-)
Alt	rs104886374(-;-)
Reference	Rs104886374(CCTGGAGACCCAGGGCAA;CCTGGAGACCCAGGGCAA)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107867507_107867524del18
CLNSRC	ClinVar
CLNACC	RCV000021459.1,

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