rs104886092

Orientation

plus

Stabilized

plus

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

Make rs104886092(G;T)

Make rs104886092(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108584485

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886092
dbSNP (classic)	rs104886092
ClinGen	rs104886092
ebi	rs104886092
HLI	rs104886092
Exac	rs104886092
Gnomad	rs104886092
Varsome	rs104886092
LitVar	rs104886092
Map	rs104886092
PheGenI	rs104886092
Biobank	rs104886092
1000 genomes	rs104886092
hgdp	rs104886092
ensembl	rs104886092
geneview	rs104886092
scholar	rs104886092
google	rs104886092
pharmgkb	rs104886092
gwascentral	rs104886092
openSNP	rs104886092
23andMe	rs104886092
SNPshot	rs104886092
SNPdbe	rs104886092
MSV3d	rs104886092
GWAS Ctlg	rs104886092

Max Magnitude

0

ClinVar
Risk	rs104886092(T;T)
Alt	rs104886092(T;T)
Reference	Rs104886092(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107827715G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021233.1,

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

OMIM	301050
Desc
Variant
Related	also