rs864309500
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs864309500(-;-) |
Make rs864309500(-;CT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133352094 |
Gene | SURF1 |
is a | snp |
is | mentioned by |
dbSNP | rs864309500 |
dbSNP (classic) | rs864309500 |
ClinGen | rs864309500 |
ebi | rs864309500 |
HLI | rs864309500 |
Exac | rs864309500 |
Gnomad | rs864309500 |
Varsome | rs864309500 |
LitVar | rs864309500 |
Map | rs864309500 |
PheGenI | rs864309500 |
Biobank | rs864309500 |
1000 genomes | rs864309500 |
hgdp | rs864309500 |
ensembl | rs864309500 |
geneview | rs864309500 |
scholar | rs864309500 |
rs864309500 | |
pharmgkb | rs864309500 |
gwascentral | rs864309500 |
openSNP | rs864309500 |
23andMe | rs864309500 |
SNPshot | rs864309500 |
SNPdbe | rs864309500 |
MSV3d | rs864309500 |
GWAS Ctlg | rs864309500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309500(-;-) |
Alt | rs864309500(-;-) |
Reference | Rs864309500(CT;CT) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SURF1 |
CLNDBN | Charcot-Marie-Tooth disease, type 4k |
Reversed | 1 |
HGVS | NC_000009.11:g.136218949_136218950delAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202439.1, |