rs104886396

Orientation

plus

Stabilized

plus

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

Make rs104886396(A;A)

Make rs104886396(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108570694

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886396
dbSNP (classic)	rs104886396
ClinGen	rs104886396
ebi	rs104886396
HLI	rs104886396
Exac	rs104886396
Gnomad	rs104886396
Varsome	rs104886396
LitVar	rs104886396
Map	rs104886396
PheGenI	rs104886396
Biobank	rs104886396
1000 genomes	rs104886396
hgdp	rs104886396
ensembl	rs104886396
geneview	rs104886396
scholar	rs104886396
google	rs104886396
pharmgkb	rs104886396
gwascentral	rs104886396
openSNP	rs104886396
23andMe	rs104886396
SNPshot	rs104886396
SNPdbe	rs104886396
MSV3d	rs104886396
GWAS Ctlg	rs104886396

Max Magnitude

0

ClinVar
Risk	rs104886396(A;A)
Alt	rs104886396(A;A)
Reference	Rs104886396(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107813924G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021141.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 12436246] Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.