rs202003795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202003795(C;C) |
Make rs202003795(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 86306374 |
Gene | C11orf73, HIKESHI |
is a | snp |
is | mentioned by |
dbSNP | rs202003795 |
dbSNP (classic) | rs202003795 |
ClinGen | rs202003795 |
ebi | rs202003795 |
HLI | rs202003795 |
Exac | rs202003795 |
Gnomad | rs202003795 |
Varsome | rs202003795 |
LitVar | rs202003795 |
Map | rs202003795 |
PheGenI | rs202003795 |
Biobank | rs202003795 |
1000 genomes | rs202003795 |
hgdp | rs202003795 |
ensembl | rs202003795 |
geneview | rs202003795 |
scholar | rs202003795 |
rs202003795 | |
pharmgkb | rs202003795 |
gwascentral | rs202003795 |
openSNP | rs202003795 |
23andMe | rs202003795 |
SNPshot | rs202003795 |
SNPdbe | rs202003795 |
MSV3d | rs202003795 |
GWAS Ctlg | rs202003795 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202003795(C;C) |
Alt | rs202003795(C;C) |
Reference | Rs202003795(G;G) |
Significance | Pathogenic |
Disease | Leukodystrophy not provided |
Variation | info |
Gene | C11orf73 HIKESHI |
CLNDBN | Leukodystrophy, hypomyelinating, 13 not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.86017416G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210461.1, RCV000426227.1, |