rs74315518
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315518(A;A) |
Make rs74315518(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 37974144 |
Gene | POLR2F, SOX10 |
is a | snp |
is | mentioned by |
dbSNP | rs74315518 |
dbSNP (classic) | rs74315518 |
ClinGen | rs74315518 |
ebi | rs74315518 |
HLI | rs74315518 |
Exac | rs74315518 |
Gnomad | rs74315518 |
Varsome | rs74315518 |
LitVar | rs74315518 |
Map | rs74315518 |
PheGenI | rs74315518 |
Biobank | rs74315518 |
1000 genomes | rs74315518 |
hgdp | rs74315518 |
ensembl | rs74315518 |
geneview | rs74315518 |
scholar | rs74315518 |
rs74315518 | |
pharmgkb | rs74315518 |
gwascentral | rs74315518 |
openSNP | rs74315518 |
23andMe | rs74315518 |
SNPshot | rs74315518 |
SNPdbe | rs74315518 |
MSV3d | rs74315518 |
GWAS Ctlg | rs74315518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315518(A;A) |
Alt | rs74315518(A;A) |
Reference | Rs74315518(C;C) |
Significance | Pathogenic |
Disease | Peripheral demyelinating neuropathy |
Variation | info |
Gene | SOX10 POLR2F |
CLNDBN | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease |
Reversed | 1 |
HGVS | NC_000022.10:g.38370151G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007823.2, |