rs28937906
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28937906(C;T) |
Make rs28937906(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 74364134 |
Gene | GDAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs28937906 |
dbSNP (classic) | rs28937906 |
ClinGen | rs28937906 |
ebi | rs28937906 |
HLI | rs28937906 |
Exac | rs28937906 |
Gnomad | rs28937906 |
Varsome | rs28937906 |
LitVar | rs28937906 |
Map | rs28937906 |
PheGenI | rs28937906 |
Biobank | rs28937906 |
1000 genomes | rs28937906 |
hgdp | rs28937906 |
ensembl | rs28937906 |
geneview | rs28937906 |
scholar | rs28937906 |
rs28937906 | |
pharmgkb | rs28937906 |
gwascentral | rs28937906 |
openSNP | rs28937906 |
23andMe | rs28937906 |
SNPshot | rs28937906 |
SNPdbe | rs28937906 |
MSV3d | rs28937906 |
GWAS Ctlg | rs28937906 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28937906(T;T) |
Alt | rs28937906(T;T) |
Reference | Rs28937906(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | GDAP1 |
CLNDBN | Charcot-Marie-Tooth disease, recessive intermediate A not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.75276369C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004415.2, RCV000235864.1, |