rs104886379

Orientation

plus

Stabilized

plus

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

Make rs104886379(A;G)

Make rs104886379(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626208

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886379
dbSNP (classic)	rs104886379
ClinGen	rs104886379
ebi	rs104886379
HLI	rs104886379
Exac	rs104886379
Gnomad	rs104886379
Varsome	rs104886379
LitVar	rs104886379
Map	rs104886379
PheGenI	rs104886379
Biobank	rs104886379
1000 genomes	rs104886379
hgdp	rs104886379
ensembl	rs104886379
geneview	rs104886379
scholar	rs104886379
google	rs104886379
pharmgkb	rs104886379
gwascentral	rs104886379
openSNP	rs104886379
23andMe	rs104886379
SNPshot	rs104886379
SNPdbe	rs104886379
MSV3d	rs104886379
GWAS Ctlg	rs104886379

Max Magnitude

0

ClinVar
Risk	rs104886379(G;G)
Alt	rs104886379(G;G)
Reference	Rs104886379(A;A)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869438A>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021472.1,

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

OMIM	301050
Desc
Variant
Related	also