rs606231368
From SNPedia
Merged into | rs80356488 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231368(-;AT) |
Make rs606231368(AT;AT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 42907561 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs606231368 |
dbSNP (classic) | rs606231368 |
ClinGen | rs606231368 |
ebi | rs606231368 |
HLI | rs606231368 |
Exac | rs606231368 |
Gnomad | rs606231368 |
Varsome | rs606231368 |
LitVar | rs606231368 |
Map | rs606231368 |
PheGenI | rs606231368 |
Biobank | rs606231368 |
1000 genomes | rs606231368 |
hgdp | rs606231368 |
ensembl | rs606231368 |
geneview | rs606231368 |
scholar | rs606231368 |
rs606231368 | |
pharmgkb | rs606231368 |
gwascentral | rs606231368 |
openSNP | rs606231368 |
23andMe | rs606231368 |
SNPshot | rs606231368 |
SNPdbe | rs606231368 |
MSV3d | rs606231368 |
GWAS Ctlg | rs606231368 |
Status | Merged into rs80356488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231368(TA;TA) |
Alt | rs606231368(TA;TA) |
Reference | Rs606231368(;) |
Significance | Pathogenic |
Disease | Glycogen storage disease type 1A |
Variation | info |
Gene | G6PC |
CLNDBN | Glycogen storage disease type 1A |
Reversed | 0 |
HGVS | NC_000017.10:g.41059578_41059579dupTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012777.4, |