rs104886356

Orientation

plus

Stabilized

plus

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

Make rs104886356(-;-)

Make rs104886356(-;GGACCACCA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108614979

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886356
dbSNP (classic)	rs104886356
ClinGen	rs104886356
ebi	rs104886356
HLI	rs104886356
Exac	rs104886356
Gnomad	rs104886356
Varsome	rs104886356
LitVar	rs104886356
Map	rs104886356
PheGenI	rs104886356
Biobank	rs104886356
1000 genomes	rs104886356
hgdp	rs104886356
ensembl	rs104886356
geneview	rs104886356
scholar	rs104886356
google	rs104886356
pharmgkb	rs104886356
gwascentral	rs104886356
openSNP	rs104886356
23andMe	rs104886356
SNPshot	rs104886356
SNPdbe	rs104886356
MSV3d	rs104886356
GWAS Ctlg	rs104886356

Merged from

Rs281874693

Max Magnitude

0

ClinVar
Risk	rs104886356(-;-) rs104886356(ACCACCAGG;ACCACCAGG)
Alt	rs104886356(-;-) rs104886356(ACCACCAGG;ACCACCAGG)
Reference	Rs104886356(GGACCACCA;GGACCACCA)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107858220_107858228delACCACCAGG
CLNSRC	ClinVar
CLNACC	RCV000021406.2,

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