rs104886222

Orientation

plus

Stabilized

plus

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

Make rs104886222(C;G)

Make rs104886222(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108626315

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886222
dbSNP (classic)	rs104886222
ClinGen	rs104886222
ebi	rs104886222
HLI	rs104886222
Exac	rs104886222
Gnomad	rs104886222
Varsome	rs104886222
LitVar	rs104886222
Map	rs104886222
PheGenI	rs104886222
Biobank	rs104886222
1000 genomes	rs104886222
hgdp	rs104886222
ensembl	rs104886222
geneview	rs104886222
scholar	rs104886222
google	rs104886222
pharmgkb	rs104886222
gwascentral	rs104886222
openSNP	rs104886222
23andMe	rs104886222
SNPshot	rs104886222
SNPdbe	rs104886222
MSV3d	rs104886222
GWAS Ctlg	rs104886222

Max Magnitude

0

ClinVar
Risk	rs104886222(G;G)
Alt	rs104886222(G;G)
Reference	Rs104886222(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107869545C>G
CLNSRC	ARUP COL4A5
CLNACC	RCV000021485.1,

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

OMIM	301050
Desc
Variant
Related	also