rs371334506
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs371334506(A;C) |
Make rs371334506(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 15 |
Position | 44565954 |
Gene | SPG11 |
is a | snp |
is | mentioned by |
dbSNP | rs371334506 |
dbSNP (classic) | rs371334506 |
ClinGen | rs371334506 |
ebi | rs371334506 |
HLI | rs371334506 |
Exac | rs371334506 |
Gnomad | rs371334506 |
Varsome | rs371334506 |
LitVar | rs371334506 |
Map | rs371334506 |
PheGenI | rs371334506 |
Biobank | rs371334506 |
1000 genomes | rs371334506 |
hgdp | rs371334506 |
ensembl | rs371334506 |
geneview | rs371334506 |
scholar | rs371334506 |
rs371334506 | |
pharmgkb | rs371334506 |
gwascentral | rs371334506 |
openSNP | rs371334506 |
23andMe | rs371334506 |
SNPshot | rs371334506 |
SNPdbe | rs371334506 |
MSV3d | rs371334506 |
GWAS Ctlg | rs371334506 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371334506(C;C) rs371334506(G;G) |
Alt | rs371334506(C;C) rs371334506(G;G) |
Reference | Rs371334506(A;A) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SPG11 |
CLNDBN | Charcot-Marie-Tooth disease, axonal type 2X |
Reversed | 0 |
HGVS | NC_000015.9:g.44858152A>G |
CLNSRC | |
CLNACC | RCV000224979.1, |