rs57246956
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs57246956(A;A) |
Make rs57246956(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 855649 |
Gene | ELANE |
is a | snp |
is | mentioned by |
dbSNP | rs57246956 |
dbSNP (classic) | rs57246956 |
ClinGen | rs57246956 |
ebi | rs57246956 |
HLI | rs57246956 |
Exac | rs57246956 |
Gnomad | rs57246956 |
Varsome | rs57246956 |
LitVar | rs57246956 |
Map | rs57246956 |
PheGenI | rs57246956 |
Biobank | rs57246956 |
1000 genomes | rs57246956 |
hgdp | rs57246956 |
ensembl | rs57246956 |
geneview | rs57246956 |
scholar | rs57246956 |
rs57246956 | |
pharmgkb | rs57246956 |
gwascentral | rs57246956 |
openSNP | rs57246956 |
23andMe | rs57246956 |
SNPshot | rs57246956 |
SNPdbe | rs57246956 |
MSV3d | rs57246956 |
GWAS Ctlg | rs57246956 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57246956(A;A) rs57246956(T;T) |
Alt | rs57246956(A;A) rs57246956(T;T) |
Reference | Rs57246956(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ELANE |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.855649G>T |
CLNSRC | |
CLNACC | RCV000228921.1, |