rs773432002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs773432002(A;G) |
Make rs773432002(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 18 |
Position | 36142309 |
Gene | ELP2 |
is a | snp |
is | mentioned by |
dbSNP | rs773432002 |
dbSNP (classic) | rs773432002 |
ClinGen | rs773432002 |
ebi | rs773432002 |
HLI | rs773432002 |
Exac | rs773432002 |
Gnomad | rs773432002 |
Varsome | rs773432002 |
LitVar | rs773432002 |
Map | rs773432002 |
PheGenI | rs773432002 |
Biobank | rs773432002 |
1000 genomes | rs773432002 |
hgdp | rs773432002 |
ensembl | rs773432002 |
geneview | rs773432002 |
scholar | rs773432002 |
rs773432002 | |
pharmgkb | rs773432002 |
gwascentral | rs773432002 |
openSNP | rs773432002 |
23andMe | rs773432002 |
SNPshot | rs773432002 |
SNPdbe | rs773432002 |
MSV3d | rs773432002 |
GWAS Ctlg | rs773432002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773432002(G;G) |
Alt | rs773432002(G;G) |
Reference | Rs773432002(A;A) |
Significance | Pathogenic |
Disease | Inborn genetic diseases Mental retardation |
Variation | info |
Gene | ELP2 |
CLNDBN | Inborn genetic diseases Mental retardation, autosomal recessive 58 |
Reversed | 0 |
HGVS | NC_000018.9:g.33722272A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210560.1, RCV000415587.1, |