rs104886435
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGGGCCCTCCTGGTCCACC;AGGGCCCTCCTGGTCCACC) | 0 | common in clinvar |
(GGCCCTCCTGGTCCACCAG;GGCCCTCCTGGTCCACCAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs104886435(-;-) |
Make rs104886435(-;GGCCCTCCTGGTCCACCAG) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 108577952 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs104886435 |
dbSNP (classic) | rs104886435 |
ClinGen | rs104886435 |
ebi | rs104886435 |
HLI | rs104886435 |
Exac | rs104886435 |
Gnomad | rs104886435 |
Varsome | rs104886435 |
LitVar | rs104886435 |
Map | rs104886435 |
PheGenI | rs104886435 |
Biobank | rs104886435 |
1000 genomes | rs104886435 |
hgdp | rs104886435 |
ensembl | rs104886435 |
geneview | rs104886435 |
scholar | rs104886435 |
rs104886435 | |
pharmgkb | rs104886435 |
gwascentral | rs104886435 |
openSNP | rs104886435 |
23andMe | rs104886435 |
SNPshot | rs104886435 |
SNPdbe | rs104886435 |
MSV3d | rs104886435 |
GWAS Ctlg | rs104886435 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104886435(-;-) |
Alt | rs104886435(-;-) |
Reference | Rs104886435(AGGGCCCTCCTGGTCCACC;AGGGCCCTCCTGGTCCACC) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107821182_107821200del19 |
CLNSRC | ClinVar |
CLNACC | RCV000021177.1, |
[PMID 10561141] Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.