rs797045963
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTGTAATC;CTGTAATC) | 0 | common in clinvar |
Make rs797045963(-;-) |
Make rs797045963(-;GTAATCCT) |
Make rs797045963(GTAATCCT;GTAATCCT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 74531407 |
Gene | SLC16A2 |
is a | snp |
is | mentioned by |
dbSNP | rs797045963 |
dbSNP (classic) | rs797045963 |
ClinGen | rs797045963 |
ebi | rs797045963 |
HLI | rs797045963 |
Exac | rs797045963 |
Gnomad | rs797045963 |
Varsome | rs797045963 |
LitVar | rs797045963 |
Map | rs797045963 |
PheGenI | rs797045963 |
Biobank | rs797045963 |
1000 genomes | rs797045963 |
hgdp | rs797045963 |
ensembl | rs797045963 |
geneview | rs797045963 |
scholar | rs797045963 |
rs797045963 | |
pharmgkb | rs797045963 |
gwascentral | rs797045963 |
openSNP | rs797045963 |
23andMe | rs797045963 |
SNPshot | rs797045963 |
SNPdbe | rs797045963 |
MSV3d | rs797045963 |
GWAS Ctlg | rs797045963 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045963(-;-) |
Alt | rs797045963(-;-) |
Reference | Rs797045963(CTGTAATC;CTGTAATC) |
Significance | Pathogenic |
Disease | Allan-Herndon-Dudley syndrome |
Variation | info |
Gene | SLC16A2 |
CLNDBN | Allan-Herndon-Dudley syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.73751242_73751249delGTAATCCT |
CLNSRC | |
CLNACC | RCV000193930.1, |