rs104886081

Orientation

plus

Stabilized

plus

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

Make rs104886081(G;T)

Make rs104886081(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108581004

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886081
dbSNP (classic)	rs104886081
ClinGen	rs104886081
ebi	rs104886081
HLI	rs104886081
Exac	rs104886081
Gnomad	rs104886081
Varsome	rs104886081
LitVar	rs104886081
Map	rs104886081
PheGenI	rs104886081
Biobank	rs104886081
1000 genomes	rs104886081
hgdp	rs104886081
ensembl	rs104886081
geneview	rs104886081
scholar	rs104886081
google	rs104886081
pharmgkb	rs104886081
gwascentral	rs104886081
openSNP	rs104886081
23andMe	rs104886081
SNPshot	rs104886081
SNPdbe	rs104886081
MSV3d	rs104886081
GWAS Ctlg	rs104886081

Max Magnitude

0

ClinVar
Risk	rs104886081(T;T)
Alt	rs104886081(T;T)
Reference	Rs104886081(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107824234G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021219.1,

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

OMIM	301050
Desc
Variant
Related	also