rs1060501915
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTGGTG;GCTGGTG) | 0 | common in clinvar |
Make rs1060501915(-;-) |
Make rs1060501915(-;TGGTGGC) |
Make rs1060501915(TGGTGGC;TGGTGGC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 11998844 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501915 |
dbSNP (classic) | rs1060501915 |
ClinGen | rs1060501915 |
ebi | rs1060501915 |
HLI | rs1060501915 |
Exac | rs1060501915 |
Gnomad | rs1060501915 |
Varsome | rs1060501915 |
LitVar | rs1060501915 |
Map | rs1060501915 |
PheGenI | rs1060501915 |
Biobank | rs1060501915 |
1000 genomes | rs1060501915 |
hgdp | rs1060501915 |
ensembl | rs1060501915 |
geneview | rs1060501915 |
scholar | rs1060501915 |
rs1060501915 | |
pharmgkb | rs1060501915 |
gwascentral | rs1060501915 |
openSNP | rs1060501915 |
23andMe | rs1060501915 |
SNPshot | rs1060501915 |
SNPdbe | rs1060501915 |
MSV3d | rs1060501915 |
GWAS Ctlg | rs1060501915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1060501915(-;-) |
Alt | rs1060501915(-;-) |
Reference | Rs1060501915(GCTGGTG;GCTGGTG) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12058901_12058907delTGGTGGC |
CLNSRC | |
CLNACC | RCV000457530.1, |