rs104886051

Orientation

plus

Stabilized

plus

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

Make rs104886051(G;T)

Make rs104886051(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108571416

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886051
dbSNP (classic)	rs104886051
ClinGen	rs104886051
ebi	rs104886051
HLI	rs104886051
Exac	rs104886051
Gnomad	rs104886051
Varsome	rs104886051
LitVar	rs104886051
Map	rs104886051
PheGenI	rs104886051
Biobank	rs104886051
1000 genomes	rs104886051
hgdp	rs104886051
ensembl	rs104886051
geneview	rs104886051
scholar	rs104886051
google	rs104886051
pharmgkb	rs104886051
gwascentral	rs104886051
openSNP	rs104886051
23andMe	rs104886051
SNPshot	rs104886051
SNPdbe	rs104886051
MSV3d	rs104886051
GWAS Ctlg	rs104886051

Max Magnitude

0

ClinVar
Risk	rs104886051(T;T)
Alt	rs104886051(T;T)
Reference	Rs104886051(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107814646G>T
CLNSRC	ARUP COL4A5
CLNACC	RCV000021146.1,

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

OMIM	301050
Desc
Variant
Related	also