rs104886333

Orientation

plus

Stabilized

plus

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

Make rs104886333(-;-)

Make rs104886333(-;AG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597023

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886333
dbSNP (classic)	rs104886333
ClinGen	rs104886333
ebi	rs104886333
HLI	rs104886333
Exac	rs104886333
Gnomad	rs104886333
Varsome	rs104886333
LitVar	rs104886333
Map	rs104886333
PheGenI	rs104886333
Biobank	rs104886333
1000 genomes	rs104886333
hgdp	rs104886333
ensembl	rs104886333
geneview	rs104886333
scholar	rs104886333
google	rs104886333
pharmgkb	rs104886333
gwascentral	rs104886333
openSNP	rs104886333
23andMe	rs104886333
SNPshot	rs104886333
SNPdbe	rs104886333
MSV3d	rs104886333
GWAS Ctlg	rs104886333

Max Magnitude

0

ClinVar
Risk	rs104886333(-;-)
Alt	rs104886333(-;-)
Reference	Rs104886333(AG;AG)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840253_107840254delAG
CLNSRC	ClinVar
CLNACC	RCV000021084.1,

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

OMIM	301050
Desc
Variant
Related	also