rs104886436

Orientation

plus

Stabilized

plus

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

Make rs104886436(-;-)

Make rs104886436(-;TT)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108578066

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886436
dbSNP (classic)	rs104886436
ClinGen	rs104886436
ebi	rs104886436
HLI	rs104886436
Exac	rs104886436
Gnomad	rs104886436
Varsome	rs104886436
LitVar	rs104886436
Map	rs104886436
PheGenI	rs104886436
Biobank	rs104886436
1000 genomes	rs104886436
hgdp	rs104886436
ensembl	rs104886436
geneview	rs104886436
scholar	rs104886436
google	rs104886436
pharmgkb	rs104886436
gwascentral	rs104886436
openSNP	rs104886436
23andMe	rs104886436
SNPshot	rs104886436
SNPdbe	rs104886436
MSV3d	rs104886436
GWAS Ctlg	rs104886436

Max Magnitude

0

ClinVar
Risk	rs104886436(-;-)
Alt	rs104886436(-;-)
Reference	Rs104886436(TT;TT)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107821296_107821297delTT
CLNSRC	ClinVar
CLNACC	RCV000021183.1,

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