rs782726390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs782726390(C;C) |
Make rs782726390(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133354959 |
Gene | SURF1, SURF2 |
is a | snp |
is | mentioned by |
dbSNP | rs782726390 |
dbSNP (classic) | rs782726390 |
ClinGen | rs782726390 |
ebi | rs782726390 |
HLI | rs782726390 |
Exac | rs782726390 |
Gnomad | rs782726390 |
Varsome | rs782726390 |
LitVar | rs782726390 |
Map | rs782726390 |
PheGenI | rs782726390 |
Biobank | rs782726390 |
1000 genomes | rs782726390 |
hgdp | rs782726390 |
ensembl | rs782726390 |
geneview | rs782726390 |
scholar | rs782726390 |
rs782726390 | |
pharmgkb | rs782726390 |
gwascentral | rs782726390 |
openSNP | rs782726390 |
23andMe | rs782726390 |
SNPshot | rs782726390 |
SNPdbe | rs782726390 |
MSV3d | rs782726390 |
GWAS Ctlg | rs782726390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782726390(C;C) |
Alt | rs782726390(C;C) |
Reference | Rs782726390(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SURF2 SURF1 |
CLNDBN | Charcot-Marie-Tooth disease, type 4k |
Reversed | 0 |
HGVS | NC_000009.11:g.136221814T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202482.1, |