rs1057519023
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519023(A;A) |
Make rs1057519023(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 155116987 |
Gene | MME |
is a | snp |
is | mentioned by |
dbSNP | rs1057519023 |
dbSNP (classic) | rs1057519023 |
ClinGen | rs1057519023 |
ebi | rs1057519023 |
HLI | rs1057519023 |
Exac | rs1057519023 |
Gnomad | rs1057519023 |
Varsome | rs1057519023 |
LitVar | rs1057519023 |
Map | rs1057519023 |
PheGenI | rs1057519023 |
Biobank | rs1057519023 |
1000 genomes | rs1057519023 |
hgdp | rs1057519023 |
ensembl | rs1057519023 |
geneview | rs1057519023 |
scholar | rs1057519023 |
rs1057519023 | |
pharmgkb | rs1057519023 |
gwascentral | rs1057519023 |
openSNP | rs1057519023 |
23andMe | rs1057519023 |
SNPshot | rs1057519023 |
SNPdbe | rs1057519023 |
MSV3d | rs1057519023 |
GWAS Ctlg | rs1057519023 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519023(A;A) |
Alt | rs1057519023(A;A) |
Reference | Rs1057519023(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MME |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2T |
Reversed | 0 |
HGVS | NC_000003.11:g.154834776G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234889.1, |