rs104886078

Orientation

plus

Stabilized

plus

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

Make rs104886078(G;T)

Make rs104886078(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108580722

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886078
dbSNP (classic)	rs104886078
ClinGen	rs104886078
ebi	rs104886078
HLI	rs104886078
Exac	rs104886078
Gnomad	rs104886078
Varsome	rs104886078
LitVar	rs104886078
Map	rs104886078
PheGenI	rs104886078
Biobank	rs104886078
1000 genomes	rs104886078
hgdp	rs104886078
ensembl	rs104886078
geneview	rs104886078
scholar	rs104886078
google	rs104886078
pharmgkb	rs104886078
gwascentral	rs104886078
openSNP	rs104886078
23andMe	rs104886078
SNPshot	rs104886078
SNPdbe	rs104886078
MSV3d	rs104886078
GWAS Ctlg	rs104886078

Max Magnitude

0

ClinVar
Risk	rs104886078(T;T)
Alt	rs104886078(T;T)
Reference	Rs104886078(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107823952G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021212.1,

[PMID 9195222] The clinical spectrum of type IV collagen mutations.

OMIM	301050
Desc
Variant
Related	also