rs122461160
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs122461160(A;A) |
Make rs122461160(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 29955106 |
Gene | IL1RAPL1 |
is a | snp |
is | mentioned by |
dbSNP | rs122461160 |
dbSNP (classic) | rs122461160 |
ClinGen | rs122461160 |
ebi | rs122461160 |
HLI | rs122461160 |
Exac | rs122461160 |
Gnomad | rs122461160 |
Varsome | rs122461160 |
LitVar | rs122461160 |
Map | rs122461160 |
PheGenI | rs122461160 |
Biobank | rs122461160 |
1000 genomes | rs122461160 |
hgdp | rs122461160 |
ensembl | rs122461160 |
geneview | rs122461160 |
scholar | rs122461160 |
rs122461160 | |
pharmgkb | rs122461160 |
gwascentral | rs122461160 |
openSNP | rs122461160 |
23andMe | rs122461160 |
SNPshot | rs122461160 |
SNPdbe | rs122461160 |
MSV3d | rs122461160 |
GWAS Ctlg | rs122461160 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122461160(A;A) |
Alt | rs122461160(A;A) |
Reference | Rs122461160(C;C) |
Significance | Pathogenic |
Disease | Mental retardation 21 |
Variation | info |
Gene | IL1RAPL1 |
CLNDBN | Mental retardation 21, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.29973223C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012235.21, |