rs267606772
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606772(A;A) |
Make rs267606772(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 10793799 |
Gene | DNM2 |
is a | snp |
is | mentioned by |
dbSNP | rs267606772 |
dbSNP (classic) | rs267606772 |
ClinGen | rs267606772 |
ebi | rs267606772 |
HLI | rs267606772 |
Exac | rs267606772 |
Gnomad | rs267606772 |
Varsome | rs267606772 |
LitVar | rs267606772 |
Map | rs267606772 |
PheGenI | rs267606772 |
Biobank | rs267606772 |
1000 genomes | rs267606772 |
hgdp | rs267606772 |
ensembl | rs267606772 |
geneview | rs267606772 |
scholar | rs267606772 |
rs267606772 | |
pharmgkb | rs267606772 |
gwascentral | rs267606772 |
openSNP | rs267606772 |
23andMe | rs267606772 |
SNPshot | rs267606772 |
SNPdbe | rs267606772 |
MSV3d | rs267606772 |
GWAS Ctlg | rs267606772 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606772(A;A) |
Alt | rs267606772(A;A) |
Reference | Rs267606772(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease DNM2-related intermediate Charcot-Marie-Tooth neuropathy not provided |
Variation | info |
Gene | DNM2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2M DNM2-related intermediate Charcot-Marie-Tooth neuropathy not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.10904475G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007710.2, RCV000203266.1, RCV000369987.2, |