rs104886453

Orientation

plus

Stabilized

plus

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

Make rs104886453(A;G)

Make rs104886453(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108580981

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886453
dbSNP (classic)	rs104886453
ClinGen	rs104886453
ebi	rs104886453
HLI	rs104886453
Exac	rs104886453
Gnomad	rs104886453
Varsome	rs104886453
LitVar	rs104886453
Map	rs104886453
PheGenI	rs104886453
Biobank	rs104886453
1000 genomes	rs104886453
hgdp	rs104886453
ensembl	rs104886453
geneview	rs104886453
scholar	rs104886453
google	rs104886453
pharmgkb	rs104886453
gwascentral	rs104886453
openSNP	rs104886453
23andMe	rs104886453
SNPshot	rs104886453
SNPdbe	rs104886453
MSV3d	rs104886453
GWAS Ctlg	rs104886453

Max Magnitude

0

ClinVar
Risk	rs104886453(G;G)
Alt	rs104886453(G;G)
Reference	Rs104886453(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107824211A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021216.1,

OMIM	301050
Desc
Variant
Related	also

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