rs387907037
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387907037(C;C) |
Make rs387907037(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 104701748 |
Gene | INF2 |
is a | snp |
is | mentioned by |
dbSNP | rs387907037 |
dbSNP (classic) | rs387907037 |
ClinGen | rs387907037 |
ebi | rs387907037 |
HLI | rs387907037 |
Exac | rs387907037 |
Gnomad | rs387907037 |
Varsome | rs387907037 |
LitVar | rs387907037 |
Map | rs387907037 |
PheGenI | rs387907037 |
Biobank | rs387907037 |
1000 genomes | rs387907037 |
hgdp | rs387907037 |
ensembl | rs387907037 |
geneview | rs387907037 |
scholar | rs387907037 |
rs387907037 | |
pharmgkb | rs387907037 |
gwascentral | rs387907037 |
openSNP | rs387907037 |
23andMe | rs387907037 |
SNPshot | rs387907037 |
SNPdbe | rs387907037 |
MSV3d | rs387907037 |
GWAS Ctlg | rs387907037 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907037(C;C) |
Alt | rs387907037(C;C) |
Reference | Rs387907037(T;T) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | INF2 |
CLNDBN | Charcot-Marie-Tooth disease, dominant intermediate E not provided |
Reversed | 0 |
HGVS | NC_000014.8:g.105168085T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023852.2, RCV000235466.1, |