rs104886294

Orientation

plus

Stabilized

plus

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

Make rs104886294(A;A)

Make rs104886294(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108692851

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886294
dbSNP (classic)	rs104886294
ClinGen	rs104886294
ebi	rs104886294
HLI	rs104886294
Exac	rs104886294
Gnomad	rs104886294
Varsome	rs104886294
LitVar	rs104886294
Map	rs104886294
PheGenI	rs104886294
Biobank	rs104886294
1000 genomes	rs104886294
hgdp	rs104886294
ensembl	rs104886294
geneview	rs104886294
scholar	rs104886294
google	rs104886294
pharmgkb	rs104886294
gwascentral	rs104886294
openSNP	rs104886294
23andMe	rs104886294
SNPshot	rs104886294
SNPdbe	rs104886294
MSV3d	rs104886294
GWAS Ctlg	rs104886294

Max Magnitude

0

ClinVar
Risk	rs104886294(A;A)
Alt	rs104886294(A;A)
Reference	Rs104886294(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107936081G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021631.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.