rs587777913
From SNPedia
Merged into | rs281865039 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777913(-;A) |
Make rs587777913(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 101753406 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs587777913 |
dbSNP (classic) | rs587777913 |
ClinGen | rs587777913 |
ebi | rs587777913 |
HLI | rs587777913 |
Exac | rs587777913 |
Gnomad | rs587777913 |
Varsome | rs587777913 |
LitVar | rs587777913 |
Map | rs587777913 |
PheGenI | rs587777913 |
Biobank | rs587777913 |
1000 genomes | rs587777913 |
hgdp | rs587777913 |
ensembl | rs587777913 |
geneview | rs587777913 |
scholar | rs587777913 |
rs587777913 | |
pharmgkb | rs587777913 |
gwascentral | rs587777913 |
openSNP | rs587777913 |
23andMe | rs587777913 |
SNPshot | rs587777913 |
SNPdbe | rs587777913 |
MSV3d | rs587777913 |
GWAS Ctlg | rs587777913 |
Status | Merged into rs281865039 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777913(A;A) |
Alt | rs587777913(A;A) |
Reference | Rs587777913(;) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102147185dupT |
CLNSRC | |
CLNACC | RCV000031985.2, |