rs397514605
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514605(A;G) |
Make rs397514605(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 243613681 |
Gene | AKT3 |
is a | snp |
is | mentioned by |
dbSNP | rs397514605 |
dbSNP (classic) | rs397514605 |
ClinGen | rs397514605 |
ebi | rs397514605 |
HLI | rs397514605 |
Exac | rs397514605 |
Gnomad | rs397514605 |
Varsome | rs397514605 |
LitVar | rs397514605 |
Map | rs397514605 |
PheGenI | rs397514605 |
Biobank | rs397514605 |
1000 genomes | rs397514605 |
hgdp | rs397514605 |
ensembl | rs397514605 |
geneview | rs397514605 |
scholar | rs397514605 |
rs397514605 | |
pharmgkb | rs397514605 |
gwascentral | rs397514605 |
openSNP | rs397514605 |
23andMe | rs397514605 |
SNPshot | rs397514605 |
SNPdbe | rs397514605 |
MSV3d | rs397514605 |
GWAS Ctlg | rs397514605 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514605(G;G) |
Alt | rs397514605(G;G) |
Reference | Rs397514605(A;A) |
Significance | Pathogenic |
Disease | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Megalencephaly cutis marmorata telangiectatica congenita |
Variation | info |
Gene | AKT3 |
CLNDBN | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Megalencephaly cutis marmorata telangiectatica congenita |
Reversed | 1 |
HGVS | NC_000001.10:g.243776983T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033036.4, RCV000416600.1, |