rs767713084
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs767713084(C;T) |
Make rs767713084(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 18 |
Position | 36156574 |
Gene | ELP2 |
is a | snp |
is | mentioned by |
dbSNP | rs767713084 |
dbSNP (classic) | rs767713084 |
ClinGen | rs767713084 |
ebi | rs767713084 |
HLI | rs767713084 |
Exac | rs767713084 |
Gnomad | rs767713084 |
Varsome | rs767713084 |
LitVar | rs767713084 |
Map | rs767713084 |
PheGenI | rs767713084 |
Biobank | rs767713084 |
1000 genomes | rs767713084 |
hgdp | rs767713084 |
ensembl | rs767713084 |
geneview | rs767713084 |
scholar | rs767713084 |
rs767713084 | |
pharmgkb | rs767713084 |
gwascentral | rs767713084 |
openSNP | rs767713084 |
23andMe | rs767713084 |
SNPshot | rs767713084 |
SNPdbe | rs767713084 |
MSV3d | rs767713084 |
GWAS Ctlg | rs767713084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767713084(T;T) |
Alt | rs767713084(T;T) |
Reference | Rs767713084(C;C) |
Significance | Pathogenic |
Disease | Inborn genetic diseases Mental retardation not provided |
Variation | info |
Gene | ELP2 |
CLNDBN | Inborn genetic diseases Mental retardation, autosomal recessive 58 not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.33736537C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210733.1, RCV000415555.1, RCV000442926.1, |