rs104886353

Orientation

plus

Stabilized

plus

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

Make rs104886353(-;-)

Make rs104886353(-;GGACCAAATGGACAACCT)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108614919

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886353
dbSNP (classic)	rs104886353
ClinGen	rs104886353
ebi	rs104886353
HLI	rs104886353
Exac	rs104886353
Gnomad	rs104886353
Varsome	rs104886353
LitVar	rs104886353
Map	rs104886353
PheGenI	rs104886353
Biobank	rs104886353
1000 genomes	rs104886353
hgdp	rs104886353
ensembl	rs104886353
geneview	rs104886353
scholar	rs104886353
google	rs104886353
pharmgkb	rs104886353
gwascentral	rs104886353
openSNP	rs104886353
23andMe	rs104886353
SNPshot	rs104886353
SNPdbe	rs104886353
MSV3d	rs104886353
GWAS Ctlg	rs104886353

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs104886353(GGACCAAATGGACAACCT;GGACCAAATGGACAACCT)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107858149_107858166del18
CLNSRC
CLNACC

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.