rs199473691
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCC;TCC) | 0 | common in clinvar |
Make rs199473691(ATA;ATA) |
Make rs199473691(ATA;TCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 10155029 |
Gene | DNMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473691 |
dbSNP (classic) | rs199473691 |
ClinGen | rs199473691 |
ebi | rs199473691 |
HLI | rs199473691 |
Exac | rs199473691 |
Gnomad | rs199473691 |
Varsome | rs199473691 |
LitVar | rs199473691 |
Map | rs199473691 |
PheGenI | rs199473691 |
Biobank | rs199473691 |
1000 genomes | rs199473691 |
hgdp | rs199473691 |
ensembl | rs199473691 |
geneview | rs199473691 |
scholar | rs199473691 |
rs199473691 | |
pharmgkb | rs199473691 |
gwascentral | rs199473691 |
openSNP | rs199473691 |
23andMe | rs199473691 |
SNPshot | rs199473691 |
SNPdbe | rs199473691 |
MSV3d | rs199473691 |
GWAS Ctlg | rs199473691 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473691(ATA;ATA) |
Alt | rs199473691(ATA;ATA) |
Reference | Rs199473691(TCC;TCC) |
Significance | Pathogenic |
Disease | Hereditary sensory neuropathy type IE |
Variation | info |
Gene | DNMT1 |
CLNDBN | Hereditary sensory neuropathy type IE |
Reversed | 1 |
HGVS | NC_000019.9:g.10265705_10265707delGGAinsTAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022530.29, |