rs864309504
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864309504(C;T) |
Make rs864309504(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 30949809 |
Gene | MORC2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309504 |
dbSNP (classic) | rs864309504 |
ClinGen | rs864309504 |
ebi | rs864309504 |
HLI | rs864309504 |
Exac | rs864309504 |
Gnomad | rs864309504 |
Varsome | rs864309504 |
LitVar | rs864309504 |
Map | rs864309504 |
PheGenI | rs864309504 |
Biobank | rs864309504 |
1000 genomes | rs864309504 |
hgdp | rs864309504 |
ensembl | rs864309504 |
geneview | rs864309504 |
scholar | rs864309504 |
rs864309504 | |
pharmgkb | rs864309504 |
gwascentral | rs864309504 |
openSNP | rs864309504 |
23andMe | rs864309504 |
SNPshot | rs864309504 |
SNPdbe | rs864309504 |
MSV3d | rs864309504 |
GWAS Ctlg | rs864309504 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309504(T;T) |
Alt | rs864309504(T;T) |
Reference | Rs864309504(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MORC2 |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2z |
Reversed | 1 |
HGVS | NC_000022.10:g.31345795G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202460.4, |