rs1057519077
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057519077(A;A) |
Make rs1057519077(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 43769804 |
Gene | KCNN4 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519077 |
dbSNP (classic) | rs1057519077 |
ClinGen | rs1057519077 |
ebi | rs1057519077 |
HLI | rs1057519077 |
Exac | rs1057519077 |
Gnomad | rs1057519077 |
Varsome | rs1057519077 |
LitVar | rs1057519077 |
Map | rs1057519077 |
PheGenI | rs1057519077 |
Biobank | rs1057519077 |
1000 genomes | rs1057519077 |
hgdp | rs1057519077 |
ensembl | rs1057519077 |
geneview | rs1057519077 |
scholar | rs1057519077 |
rs1057519077 | |
pharmgkb | rs1057519077 |
gwascentral | rs1057519077 |
openSNP | rs1057519077 |
23andMe | rs1057519077 |
SNPshot | rs1057519077 |
SNPdbe | rs1057519077 |
MSV3d | rs1057519077 |
GWAS Ctlg | rs1057519077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519077(A;A) |
Alt | rs1057519077(A;A) |
Reference | Rs1057519077(T;T) |
Significance | Pathogenic |
Disease | Dehydrated hereditary stomatocytosis 2 |
Variation | info |
Gene | KCNN4 |
CLNDBN | Dehydrated hereditary stomatocytosis 2 |
Reversed | 1 |
HGVS | NC_000019.9:g.44273956A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412652.1, |