rs104886109

Orientation

plus

Stabilized

plus

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

Make rs104886109(-;-)

Make rs104886109(-;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591157

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886109
dbSNP (classic)	rs104886109
ClinGen	rs104886109
ebi	rs104886109
HLI	rs104886109
Exac	rs104886109
Gnomad	rs104886109
Varsome	rs104886109
LitVar	rs104886109
Map	rs104886109
PheGenI	rs104886109
Biobank	rs104886109
1000 genomes	rs104886109
hgdp	rs104886109
ensembl	rs104886109
geneview	rs104886109
scholar	rs104886109
google	rs104886109
pharmgkb	rs104886109
gwascentral	rs104886109
openSNP	rs104886109
23andMe	rs104886109
SNPshot	rs104886109
SNPdbe	rs104886109
MSV3d	rs104886109
GWAS Ctlg	rs104886109

Max Magnitude

0

ClinVar
Risk	rs104886109(-;-)
Alt	rs104886109(-;-)
Reference	Rs104886109(C;C)
Significance	Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834387delC
CLNSRC	ClinVar
CLNACC	RCV000021270.1,

OMIM	301050
Desc
Variant
Related	also

[PMID 8940267] Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.