rs782190413
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs782190413(A;A) |
Make rs782190413(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 133352708 |
Gene | SURF1 |
is a | snp |
is | mentioned by |
dbSNP | rs782190413 |
dbSNP (classic) | rs782190413 |
ClinGen | rs782190413 |
ebi | rs782190413 |
HLI | rs782190413 |
Exac | rs782190413 |
Gnomad | rs782190413 |
Varsome | rs782190413 |
LitVar | rs782190413 |
Map | rs782190413 |
PheGenI | rs782190413 |
Biobank | rs782190413 |
1000 genomes | rs782190413 |
hgdp | rs782190413 |
ensembl | rs782190413 |
geneview | rs782190413 |
scholar | rs782190413 |
rs782190413 | |
pharmgkb | rs782190413 |
gwascentral | rs782190413 |
openSNP | rs782190413 |
23andMe | rs782190413 |
SNPshot | rs782190413 |
SNPdbe | rs782190413 |
MSV3d | rs782190413 |
GWAS Ctlg | rs782190413 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs782190413(A;A) |
Alt | rs782190413(A;A) |
Reference | Rs782190413(G;G) |
Significance | Pathogenic |
Disease | not provided Charcot-Marie-Tooth disease |
Variation | info |
Gene | SURF1 |
CLNDBN | not provided Charcot-Marie-Tooth disease, type 4k |
Reversed | 0 |
HGVS | NC_000009.11:g.136219563G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000199387.2, RCV000202523.1, |