rs797045423
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GA;GA) | 0 | common in clinvar |
Make rs797045423(GA;TGGAGGAACAGT) |
Make rs797045423(TGGAGGAACAGT;TGGAGGAACAGT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 29702912 |
Gene | C19orf12 |
is a | snp |
is | mentioned by |
dbSNP | rs797045423 |
dbSNP (classic) | rs797045423 |
ClinGen | rs797045423 |
ebi | rs797045423 |
HLI | rs797045423 |
Exac | rs797045423 |
Gnomad | rs797045423 |
Varsome | rs797045423 |
LitVar | rs797045423 |
Map | rs797045423 |
PheGenI | rs797045423 |
Biobank | rs797045423 |
1000 genomes | rs797045423 |
hgdp | rs797045423 |
ensembl | rs797045423 |
geneview | rs797045423 |
scholar | rs797045423 |
rs797045423 | |
pharmgkb | rs797045423 |
gwascentral | rs797045423 |
openSNP | rs797045423 |
23andMe | rs797045423 |
SNPshot | rs797045423 |
SNPdbe | rs797045423 |
MSV3d | rs797045423 |
GWAS Ctlg | rs797045423 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045423(TGGAGGAACAGT;TGGAGGAACAGT) |
Alt | rs797045423(TGGAGGAACAGT;TGGAGGAACAGT) |
Reference | Rs797045423(GA;GA) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 4 |
Variation | info |
Gene | C19orf12 |
CLNDBN | Neurodegeneration with brain iron accumulation 4 |
Reversed | 1 |
HGVS | NC_000019.9:g.30193819_30193820delTCinsACTGTTCCTCCA |
CLNSRC | |
CLNACC | RCV000194885.1, |