rs77938727
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs77938727(C;T) |
Make rs77938727(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44065240 |
Gene | PGAM2 |
is a | snp |
is | mentioned by |
dbSNP | rs77938727 |
dbSNP (classic) | rs77938727 |
ClinGen | rs77938727 |
ebi | rs77938727 |
HLI | rs77938727 |
Exac | rs77938727 |
Gnomad | rs77938727 |
Varsome | rs77938727 |
LitVar | rs77938727 |
Map | rs77938727 |
PheGenI | rs77938727 |
Biobank | rs77938727 |
1000 genomes | rs77938727 |
hgdp | rs77938727 |
ensembl | rs77938727 |
geneview | rs77938727 |
scholar | rs77938727 |
rs77938727 | |
pharmgkb | rs77938727 |
gwascentral | rs77938727 |
openSNP | rs77938727 |
23andMe | rs77938727 |
SNPshot | rs77938727 |
SNPdbe | rs77938727 |
MSV3d | rs77938727 |
GWAS Ctlg | rs77938727 |
GMAF | 0.003673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77938727(T;T) |
Alt | rs77938727(T;T) |
Reference | Rs77938727(C;C) |
Significance | Other |
Disease | Glycogen storage disease type X |
Variation | info |
Gene | PGAM2 |
CLNDBN | Glycogen storage disease type X |
Reversed | 0 |
HGVS | NC_000007.13:g.44104839C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000449.2, |