rs730882187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common genotype |
(AA;AA) | 0 | common in clinvar |
Make rs730882187(AA;CC) |
Make rs730882187(CC;CC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 135998188 |
Gene | SLC9A6 |
is a | snp |
is | mentioned by |
dbSNP | rs730882187 |
dbSNP (classic) | rs730882187 |
ClinGen | rs730882187 |
ebi | rs730882187 |
HLI | rs730882187 |
Exac | rs730882187 |
Gnomad | rs730882187 |
Varsome | rs730882187 |
LitVar | rs730882187 |
Map | rs730882187 |
PheGenI | rs730882187 |
Biobank | rs730882187 |
1000 genomes | rs730882187 |
hgdp | rs730882187 |
ensembl | rs730882187 |
geneview | rs730882187 |
scholar | rs730882187 |
rs730882187 | |
pharmgkb | rs730882187 |
gwascentral | rs730882187 |
openSNP | rs730882187 |
23andMe | rs730882187 |
SNPshot | rs730882187 |
SNPdbe | rs730882187 |
MSV3d | rs730882187 |
GWAS Ctlg | rs730882187 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882187(CC;CC) |
Alt | rs730882187(CC;CC) |
Reference | Rs730882187(AA;AA) |
Significance | Pathogenic |
Disease | Christianson syndrome |
Variation | info |
Gene | SLC9A6 |
CLNDBN | Christianson syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.135080347_135080348delAAinsCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012233.13, |