rs104886326

Orientation

plus

Stabilized

plus

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

Make rs104886326(-;GGGG)

Make rs104886326(GGGG;GGGG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591109

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886326
dbSNP (classic)	rs104886326
ClinGen	rs104886326
ebi	rs104886326
HLI	rs104886326
Exac	rs104886326
Gnomad	rs104886326
Varsome	rs104886326
LitVar	rs104886326
Map	rs104886326
PheGenI	rs104886326
Biobank	rs104886326
1000 genomes	rs104886326
hgdp	rs104886326
ensembl	rs104886326
geneview	rs104886326
scholar	rs104886326
google	rs104886326
pharmgkb	rs104886326
gwascentral	rs104886326
openSNP	rs104886326
23andMe	rs104886326
SNPshot	rs104886326
SNPdbe	rs104886326
MSV3d	rs104886326
GWAS Ctlg	rs104886326

Max Magnitude

0

ClinVar
Risk	rs104886326(GGGG;GGGG)
Alt	rs104886326(GGGG;GGGG)
Reference	Rs104886326(;)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834336_107834339dupGGGG
CLNSRC
CLNACC

[PMID 8651296] X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.