rs121434610
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434610(A;A) |
Make rs121434610(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 21967312 |
Gene | SMS |
is a | snp |
is | mentioned by |
dbSNP | rs121434610 |
dbSNP (classic) | rs121434610 |
ClinGen | rs121434610 |
ebi | rs121434610 |
HLI | rs121434610 |
Exac | rs121434610 |
Gnomad | rs121434610 |
Varsome | rs121434610 |
LitVar | rs121434610 |
Map | rs121434610 |
PheGenI | rs121434610 |
Biobank | rs121434610 |
1000 genomes | rs121434610 |
hgdp | rs121434610 |
ensembl | rs121434610 |
geneview | rs121434610 |
scholar | rs121434610 |
rs121434610 | |
pharmgkb | rs121434610 |
gwascentral | rs121434610 |
openSNP | rs121434610 |
23andMe | rs121434610 |
SNPshot | rs121434610 |
SNPdbe | rs121434610 |
MSV3d | rs121434610 |
GWAS Ctlg | rs121434610 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434610(A;A) |
Alt | rs121434610(A;A) |
Reference | Rs121434610(G;G) |
Significance | Pathogenic |
Disease | Snyder Robinson syndrome Inborn genetic diseases not provided |
Variation | info |
Gene | SMS |
CLNDBN | Snyder Robinson syndrome Inborn genetic diseases not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.21985430G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012390.17, RCV000210586.1, RCV000414369.1, |