rs606231270
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231270(C;G) |
Make rs606231270(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 44952372 |
Gene | SETBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231270 |
dbSNP (classic) | rs606231270 |
ClinGen | rs606231270 |
ebi | rs606231270 |
HLI | rs606231270 |
Exac | rs606231270 |
Gnomad | rs606231270 |
Varsome | rs606231270 |
LitVar | rs606231270 |
Map | rs606231270 |
PheGenI | rs606231270 |
Biobank | rs606231270 |
1000 genomes | rs606231270 |
hgdp | rs606231270 |
ensembl | rs606231270 |
geneview | rs606231270 |
scholar | rs606231270 |
rs606231270 | |
pharmgkb | rs606231270 |
gwascentral | rs606231270 |
openSNP | rs606231270 |
23andMe | rs606231270 |
SNPshot | rs606231270 |
SNPdbe | rs606231270 |
MSV3d | rs606231270 |
GWAS Ctlg | rs606231270 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231270(G;G) |
Alt | rs606231270(G;G) |
Reference | Rs606231270(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SETBP1 |
CLNDBN | Mental retardation, autosomal dominant 29 |
Reversed | 0 |
HGVS | NC_000018.9:g.42532337C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144902.3, |