rs786204522
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
Make rs786204522(-;TAGAATGAGTTAC) |
Make rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 75761187 |
Gene | ACADM |
is a | snp |
is | mentioned by |
dbSNP | rs786204522 |
dbSNP (classic) | rs786204522 |
ClinGen | rs786204522 |
ebi | rs786204522 |
HLI | rs786204522 |
Exac | rs786204522 |
Gnomad | rs786204522 |
Varsome | rs786204522 |
LitVar | rs786204522 |
Map | rs786204522 |
PheGenI | rs786204522 |
Biobank | rs786204522 |
1000 genomes | rs786204522 |
hgdp | rs786204522 |
ensembl | rs786204522 |
geneview | rs786204522 |
scholar | rs786204522 |
rs786204522 | |
pharmgkb | rs786204522 |
gwascentral | rs786204522 |
openSNP | rs786204522 |
23andMe | rs786204522 |
SNPshot | rs786204522 |
SNPdbe | rs786204522 |
MSV3d | rs786204522 |
GWAS Ctlg | rs786204522 |
Max Magnitude | 0 |
c.999_1011dup (p.Gln338Terfs)
ClinVar | |
---|---|
Risk | rs786204522(CTAGAATGAGTTA;CTAGAATGAGTTA) rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC) |
Alt | rs786204522(CTAGAATGAGTTA;CTAGAATGAGTTA) rs786204522(TAGAATGAGTTAC;TAGAATGAGTTAC) |
Reference | Rs786204522(-;-) |
Significance | Other |
Disease | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Variation | info |
Gene | ACADM |
CLNDBN | Medium-chain acyl-coenzyme A dehydrogenase deficiency not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.76226860_76226872dupTAGAATGAGTTAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003770.5, RCV000478348.1, |