rs104886275

Orientation

plus

Stabilized

plus

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

Make rs104886275(-;-)

Make rs104886275(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108687533

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886275
dbSNP (classic)	rs104886275
ClinGen	rs104886275
ebi	rs104886275
HLI	rs104886275
Exac	rs104886275
Gnomad	rs104886275
Varsome	rs104886275
LitVar	rs104886275
Map	rs104886275
PheGenI	rs104886275
Biobank	rs104886275
1000 genomes	rs104886275
hgdp	rs104886275
ensembl	rs104886275
geneview	rs104886275
scholar	rs104886275
google	rs104886275
pharmgkb	rs104886275
gwascentral	rs104886275
openSNP	rs104886275
23andMe	rs104886275
SNPshot	rs104886275
SNPdbe	rs104886275
MSV3d	rs104886275
GWAS Ctlg	rs104886275

Max Magnitude

0

ClinVar
Risk	rs104886275(-;-)
Alt	rs104886275(-;-)
Reference	Rs104886275(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107930763delC
CLNSRC	ClinVar
CLNACC	RCV000021615.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 15954103] Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.