rs587779412
From SNPedia
Merged into | rs281865022 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAA;AGAA) | 0 | common in clinvar |
Make rs587779412(-;-) |
Make rs587779412(-;AAAG) |
Make rs587779412(AAAG;AAAG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 101747193 |
Gene | GNPTAB, LOC101929005 |
is a | snp |
is | mentioned by |
dbSNP | rs587779412 |
dbSNP (classic) | rs587779412 |
ClinGen | rs587779412 |
ebi | rs587779412 |
HLI | rs587779412 |
Exac | rs587779412 |
Gnomad | rs587779412 |
Varsome | rs587779412 |
LitVar | rs587779412 |
Map | rs587779412 |
PheGenI | rs587779412 |
Biobank | rs587779412 |
1000 genomes | rs587779412 |
hgdp | rs587779412 |
ensembl | rs587779412 |
geneview | rs587779412 |
scholar | rs587779412 |
rs587779412 | |
pharmgkb | rs587779412 |
gwascentral | rs587779412 |
openSNP | rs587779412 |
23andMe | rs587779412 |
SNPshot | rs587779412 |
SNPdbe | rs587779412 |
MSV3d | rs587779412 |
GWAS Ctlg | rs587779412 |
Status | Merged into rs281865022 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs587779412(AGAA;AGAA) |
Significance | Pathogenic |
Disease | I cell disease Pseudo-Hurler polydystrophy |
Variation | info |
Gene | GNPTAB LOC101929005 |
CLNDBN | I cell disease Pseudo-Hurler polydystrophy |
Reversed | 1 |
HGVS | NC_000012.11:g.102140969_102140972delTTCT |
CLNSRC | |
CLNACC | RCV000032345.1, RCV000087105.1, |