rs1057518918
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057518918(-;-) |
Make rs1057518918(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 157184329 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs1057518918 |
dbSNP (classic) | rs1057518918 |
ClinGen | rs1057518918 |
ebi | rs1057518918 |
HLI | rs1057518918 |
Exac | rs1057518918 |
Gnomad | rs1057518918 |
Varsome | rs1057518918 |
LitVar | rs1057518918 |
Map | rs1057518918 |
PheGenI | rs1057518918 |
Biobank | rs1057518918 |
1000 genomes | rs1057518918 |
hgdp | rs1057518918 |
ensembl | rs1057518918 |
geneview | rs1057518918 |
scholar | rs1057518918 |
rs1057518918 | |
pharmgkb | rs1057518918 |
gwascentral | rs1057518918 |
openSNP | rs1057518918 |
23andMe | rs1057518918 |
SNPshot | rs1057518918 |
SNPdbe | rs1057518918 |
MSV3d | rs1057518918 |
GWAS Ctlg | rs1057518918 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518918(-;-) |
Alt | rs1057518918(-;-) |
Reference | Rs1057518918(C;C) |
Significance | Probable-Pathogenic |
Disease | Bilateral cryptorchidism Delayed speech and language development Global developmental delay Hypertrichosis Intellectual disability Neurological speech impairment |
Variation | info |
Gene | ARID1B |
CLNDBN | Bilateral cryptorchidism Delayed speech and language development Global developmental delay Hypertrichosis Intellectual disability Neurological speech impairment |
Reversed | 0 |
HGVS | NC_000006.11:g.157505463delC |
CLNSRC | |
CLNACC | RCV000415239.1, |