rs104886128

Orientation

plus

Stabilized

plus

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

Make rs104886128(-;-)

Make rs104886128(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108597442

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886128
dbSNP (classic)	rs104886128
ClinGen	rs104886128
ebi	rs104886128
HLI	rs104886128
Exac	rs104886128
Gnomad	rs104886128
Varsome	rs104886128
LitVar	rs104886128
Map	rs104886128
PheGenI	rs104886128
Biobank	rs104886128
1000 genomes	rs104886128
hgdp	rs104886128
ensembl	rs104886128
geneview	rs104886128
scholar	rs104886128
google	rs104886128
pharmgkb	rs104886128
gwascentral	rs104886128
openSNP	rs104886128
23andMe	rs104886128
SNPshot	rs104886128
SNPdbe	rs104886128
MSV3d	rs104886128
GWAS Ctlg	rs104886128

Max Magnitude

0

ClinVar
Risk	rs104886128(-;-)
Alt	rs104886128(-;-)
Reference	Rs104886128(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107840672delC
CLNSRC	ClinVar
CLNACC	RCV000021312.1,

[PMID 15780079] Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.

OMIM	301050
Desc
Variant
Related	also