rs757563721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs757563721(G;T) |
Make rs757563721(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 95849835 |
Gene | MTMR2 |
is a | snp |
is | mentioned by |
dbSNP | rs757563721 |
dbSNP (classic) | rs757563721 |
ClinGen | rs757563721 |
ebi | rs757563721 |
HLI | rs757563721 |
Exac | rs757563721 |
Gnomad | rs757563721 |
Varsome | rs757563721 |
LitVar | rs757563721 |
Map | rs757563721 |
PheGenI | rs757563721 |
Biobank | rs757563721 |
1000 genomes | rs757563721 |
hgdp | rs757563721 |
ensembl | rs757563721 |
geneview | rs757563721 |
scholar | rs757563721 |
rs757563721 | |
pharmgkb | rs757563721 |
gwascentral | rs757563721 |
openSNP | rs757563721 |
23andMe | rs757563721 |
SNPshot | rs757563721 |
SNPdbe | rs757563721 |
MSV3d | rs757563721 |
GWAS Ctlg | rs757563721 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757563721(A;A) rs757563721(T;T) |
Alt | rs757563721(A;A) rs757563721(T;T) |
Reference | Rs757563721(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MTMR2 |
CLNDBN | Charcot-Marie-Tooth disease, type IV |
Reversed | 0 |
HGVS | NC_000011.9:g.95582999G>A |
CLNSRC | |
CLNACC | RCV000228911.1, |