rs104886045

Orientation

plus

Stabilized

plus

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

Make rs104886045(-;-)

Make rs104886045(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108568645

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886045
dbSNP (classic)	rs104886045
ClinGen	rs104886045
ebi	rs104886045
HLI	rs104886045
Exac	rs104886045
Gnomad	rs104886045
Varsome	rs104886045
LitVar	rs104886045
Map	rs104886045
PheGenI	rs104886045
Biobank	rs104886045
1000 genomes	rs104886045
hgdp	rs104886045
ensembl	rs104886045
geneview	rs104886045
scholar	rs104886045
google	rs104886045
pharmgkb	rs104886045
gwascentral	rs104886045
openSNP	rs104886045
23andMe	rs104886045
SNPshot	rs104886045
SNPdbe	rs104886045
MSV3d	rs104886045
GWAS Ctlg	rs104886045

Max Magnitude

0

ClinVar
Risk	rs104886045(-;-)
Alt	rs104886045(-;-)
Reference	Rs104886045(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107811875delC
CLNSRC	ClinVar
CLNACC	RCV000021137.1,

[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM	301050
Desc
Variant
Related	also