rs797045861
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045861(-;A) |
Make rs797045861(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 2670204 |
Gene | PAFAH1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045861 |
dbSNP (classic) | rs797045861 |
ClinGen | rs797045861 |
ebi | rs797045861 |
HLI | rs797045861 |
Exac | rs797045861 |
Gnomad | rs797045861 |
Varsome | rs797045861 |
LitVar | rs797045861 |
Map | rs797045861 |
PheGenI | rs797045861 |
Biobank | rs797045861 |
1000 genomes | rs797045861 |
hgdp | rs797045861 |
ensembl | rs797045861 |
geneview | rs797045861 |
scholar | rs797045861 |
rs797045861 | |
pharmgkb | rs797045861 |
gwascentral | rs797045861 |
openSNP | rs797045861 |
23andMe | rs797045861 |
SNPshot | rs797045861 |
SNPdbe | rs797045861 |
MSV3d | rs797045861 |
GWAS Ctlg | rs797045861 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045861(A;A) |
Alt | rs797045861(A;A) |
Reference | Rs797045861(-;-) |
Significance | Pathogenic |
Disease | Lissencephaly 1 not provided |
Variation | info |
Gene | PAFAH1B1 |
CLNDBN | Lissencephaly 1 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.2573498dupA |
CLNSRC | |
CLNACC | RCV000194728.1, RCV000481949.1, |