rs104886318

Orientation

plus

Stabilized

plus

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

Make rs104886318(-;G)

Make rs104886318(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

108591180

Gene

COL4A5

is a	snp
is	mentioned by
dbSNP	rs104886318
dbSNP (classic)	rs104886318
ClinGen	rs104886318
ebi	rs104886318
HLI	rs104886318
Exac	rs104886318
Gnomad	rs104886318
Varsome	rs104886318
LitVar	rs104886318
Map	rs104886318
PheGenI	rs104886318
Biobank	rs104886318
1000 genomes	rs104886318
hgdp	rs104886318
ensembl	rs104886318
geneview	rs104886318
scholar	rs104886318
google	rs104886318
pharmgkb	rs104886318
gwascentral	rs104886318
openSNP	rs104886318
23andMe	rs104886318
SNPshot	rs104886318
SNPdbe	rs104886318
MSV3d	rs104886318
GWAS Ctlg	rs104886318

Max Magnitude

0

ClinVar
Risk	rs104886318(G;G)
Alt	rs104886318(G;G)
Reference	Rs104886318(;)
Significance	Probable-Pathogenic
Disease	Alport syndrome
Variation	info
Gene	COL4A5
CLNDBN	Alport syndrome, X-linked recessive
Reversed	0
HGVS	NC_000023.10:g.107834410dupG
CLNSRC
CLNACC

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