rs104886393
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC;CAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC) | 0 | common in clinvar |
(CCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA;CCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs104886393(-;-) |
Make rs104886393(-;CAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 108668424 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs104886393 |
dbSNP (classic) | rs104886393 |
ClinGen | rs104886393 |
ebi | rs104886393 |
HLI | rs104886393 |
Exac | rs104886393 |
Gnomad | rs104886393 |
Varsome | rs104886393 |
LitVar | rs104886393 |
Map | rs104886393 |
PheGenI | rs104886393 |
Biobank | rs104886393 |
1000 genomes | rs104886393 |
hgdp | rs104886393 |
ensembl | rs104886393 |
geneview | rs104886393 |
scholar | rs104886393 |
rs104886393 | |
pharmgkb | rs104886393 |
gwascentral | rs104886393 |
openSNP | rs104886393 |
23andMe | rs104886393 |
SNPshot | rs104886393 |
SNPdbe | rs104886393 |
MSV3d | rs104886393 |
GWAS Ctlg | rs104886393 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104886393(-;-) |
Alt | rs104886393(-;-) |
Reference | Rs104886393(CCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA;CCCCAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAA) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107911654_107911705del52 |
CLNSRC | ClinVar |
CLNACC | RCV000021553.1, |
[PMID 8648925] The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.