rs104886434

Orientation

plus

Stabilized

plus

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

Make rs104886434(A;A)

Make rs104886434(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108575973

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886434
dbSNP (classic)	rs104886434
ClinGen	rs104886434
ebi	rs104886434
HLI	rs104886434
Exac	rs104886434
Gnomad	rs104886434
Varsome	rs104886434
LitVar	rs104886434
Map	rs104886434
PheGenI	rs104886434
Biobank	rs104886434
1000 genomes	rs104886434
hgdp	rs104886434
ensembl	rs104886434
geneview	rs104886434
scholar	rs104886434
google	rs104886434
pharmgkb	rs104886434
gwascentral	rs104886434
openSNP	rs104886434
23andMe	rs104886434
SNPshot	rs104886434
SNPdbe	rs104886434
MSV3d	rs104886434
GWAS Ctlg	rs104886434

Max Magnitude

0

ClinVar
Risk	rs104886434(A;A)
Alt	rs104886434(A;A)
Reference	Rs104886434(G;G)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107819203G>A
CLNSRC	ARUP COL4A5
CLNACC	RCV000021173.1,

[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM	301050
Desc
Variant
Related	also