rs104886346

Orientation

plus

Stabilized

plus

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

Make rs104886346(-;-)

Make rs104886346(-;GAAGGCCCTCCTGGGCCACCC)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108603023

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886346
dbSNP (classic)	rs104886346
ClinGen	rs104886346
ebi	rs104886346
HLI	rs104886346
Exac	rs104886346
Gnomad	rs104886346
Varsome	rs104886346
LitVar	rs104886346
Map	rs104886346
PheGenI	rs104886346
Biobank	rs104886346
1000 genomes	rs104886346
hgdp	rs104886346
ensembl	rs104886346
geneview	rs104886346
scholar	rs104886346
google	rs104886346
pharmgkb	rs104886346
gwascentral	rs104886346
openSNP	rs104886346
23andMe	rs104886346
SNPshot	rs104886346
SNPdbe	rs104886346
MSV3d	rs104886346
GWAS Ctlg	rs104886346

Max Magnitude

0

ClinVar
Risk	rs104886346(-;-)
Alt	rs104886346(-;-)
Reference	Rs104886346(GAAGGCCCTCCTGGGCCACCC;GAAGGCCCTCCTGGGCCACCC)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107846253_107846273del21
CLNSRC	ClinVar
CLNACC	RCV000021374.1,

[PMID 16941480] A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.