rs7560008
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in complete genomics |
Make rs7560008(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 215011442 |
Gene | ABCA12 |
is a | snp |
is | mentioned by |
dbSNP | rs7560008 |
dbSNP (classic) | rs7560008 |
ClinGen | rs7560008 |
ebi | rs7560008 |
HLI | rs7560008 |
Exac | rs7560008 |
Gnomad | rs7560008 |
Varsome | rs7560008 |
LitVar | rs7560008 |
Map | rs7560008 |
PheGenI | rs7560008 |
Biobank | rs7560008 |
1000 genomes | rs7560008 |
hgdp | rs7560008 |
ensembl | rs7560008 |
geneview | rs7560008 |
scholar | rs7560008 |
rs7560008 | |
pharmgkb | rs7560008 |
gwascentral | rs7560008 |
openSNP | rs7560008 |
23andMe | rs7560008 |
SNPshot | rs7560008 |
SNPdbe | rs7560008 |
MSV3d | rs7560008 |
GWAS Ctlg | rs7560008 |
GMAF | 0.001837 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs7560008(T;T) |
Alt | Rs7560008(T;T) |
Reference | Rs7560008(A;A) |
Significance | Non-pathogenic |
Disease | not specified Congenital ichthyosiform erythroderma |
Variation | info |
Gene | ABCA12 |
CLNDBN | not specified Congenital ichthyosiform erythroderma |
Reversed | 0 |
HGVS | NC_000002.11:g.215876166A>T |
CLNSRC | |
CLNACC | RCV000248760.1, RCV000319091.1, |