rs104886362

Orientation

plus

Stabilized

plus

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

Make rs104886362(-;C)

Make rs104886362(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108621833

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886362
dbSNP (classic)	rs104886362
ClinGen	rs104886362
ebi	rs104886362
HLI	rs104886362
Exac	rs104886362
Gnomad	rs104886362
Varsome	rs104886362
LitVar	rs104886362
Map	rs104886362
PheGenI	rs104886362
Biobank	rs104886362
1000 genomes	rs104886362
hgdp	rs104886362
ensembl	rs104886362
geneview	rs104886362
scholar	rs104886362
google	rs104886362
pharmgkb	rs104886362
gwascentral	rs104886362
openSNP	rs104886362
23andMe	rs104886362
SNPshot	rs104886362
SNPdbe	rs104886362
MSV3d	rs104886362
GWAS Ctlg	rs104886362

Max Magnitude

0

ClinVar
Risk	rs104886362(C;C)
Alt	rs104886362(C;C)
Reference	Rs104886362(-;-)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107865063dupC
CLNSRC	ClinVar
CLNACC	RCV000021435.1,

[PMID 17660027] Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.