rs398122908
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs398122908(A;G) |
Make rs398122908(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 153971810 |
Gene | HCFC1, TMEM187 |
is a | snp |
is | mentioned by |
dbSNP | rs398122908 |
dbSNP (classic) | rs398122908 |
ClinGen | rs398122908 |
ebi | rs398122908 |
HLI | rs398122908 |
Exac | rs398122908 |
Gnomad | rs398122908 |
Varsome | rs398122908 |
LitVar | rs398122908 |
Map | rs398122908 |
PheGenI | rs398122908 |
Biobank | rs398122908 |
1000 genomes | rs398122908 |
hgdp | rs398122908 |
ensembl | rs398122908 |
geneview | rs398122908 |
scholar | rs398122908 |
rs398122908 | |
pharmgkb | rs398122908 |
gwascentral | rs398122908 |
openSNP | rs398122908 |
23andMe | rs398122908 |
SNPshot | rs398122908 |
SNPdbe | rs398122908 |
MSV3d | rs398122908 |
GWAS Ctlg | rs398122908 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs398122908(C;C) |
Alt | rs398122908(C;C) |
Reference | Rs398122908(T;T) |
Significance | Pathogenic |
Disease | Mental retardation 3 |
Variation | info |
Gene | TMEM187 HCFC1 |
CLNDBN | Mental retardation 3, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.153237261A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032896.25, |