rs760730366
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CCCGGGAG) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
(CCCGGGAG;CCCGGGAG) | 0 | common in clinvar |
Make rs760730366(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 161307356 |
Gene | MPZ |
is a | snp |
is | mentioned by |
dbSNP | rs760730366 |
dbSNP (classic) | rs760730366 |
ClinGen | rs760730366 |
ebi | rs760730366 |
HLI | rs760730366 |
Exac | rs760730366 |
Gnomad | rs760730366 |
Varsome | rs760730366 |
LitVar | rs760730366 |
Map | rs760730366 |
PheGenI | rs760730366 |
Biobank | rs760730366 |
1000 genomes | rs760730366 |
hgdp | rs760730366 |
ensembl | rs760730366 |
geneview | rs760730366 |
scholar | rs760730366 |
rs760730366 | |
pharmgkb | rs760730366 |
gwascentral | rs760730366 |
openSNP | rs760730366 |
23andMe | rs760730366 |
SNPshot | rs760730366 |
SNPdbe | rs760730366 |
MSV3d | rs760730366 |
GWAS Ctlg | rs760730366 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs760730366(-;-) |
Alt | rs760730366(-;-) |
Reference | Rs760730366(CCCGGGAG;CCCGGGAG) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MPZ |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.161277146_161277153delCCCGGGAG |
CLNSRC | |
CLNACC | RCV000235941.2, |