rs786205143
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205143(A;C) |
Make rs786205143(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 154794095 |
Gene | DPP6 |
is a | snp |
is | mentioned by |
dbSNP | rs786205143 |
dbSNP (classic) | rs786205143 |
ClinGen | rs786205143 |
ebi | rs786205143 |
HLI | rs786205143 |
Exac | rs786205143 |
Gnomad | rs786205143 |
Varsome | rs786205143 |
LitVar | rs786205143 |
Map | rs786205143 |
PheGenI | rs786205143 |
Biobank | rs786205143 |
1000 genomes | rs786205143 |
hgdp | rs786205143 |
ensembl | rs786205143 |
geneview | rs786205143 |
scholar | rs786205143 |
rs786205143 | |
pharmgkb | rs786205143 |
gwascentral | rs786205143 |
openSNP | rs786205143 |
23andMe | rs786205143 |
SNPshot | rs786205143 |
SNPdbe | rs786205143 |
MSV3d | rs786205143 |
GWAS Ctlg | rs786205143 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205143(C;C) |
Alt | rs786205143(C;C) |
Reference | Rs786205143(A;A) |
Significance | Pathogenic |
Disease | MENTAL RETARDATION |
Variation | info |
Gene | DPP6 |
CLNDBN | MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 |
Reversed | 0 |
HGVS | NC_000007.14:g.154794095A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169782.2, |