rs387907238
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387907238(A;A) |
Make rs387907238(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 166366043 |
Gene | MPC1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907238 |
dbSNP (classic) | rs387907238 |
ClinGen | rs387907238 |
ebi | rs387907238 |
HLI | rs387907238 |
Exac | rs387907238 |
Gnomad | rs387907238 |
Varsome | rs387907238 |
LitVar | rs387907238 |
Map | rs387907238 |
PheGenI | rs387907238 |
Biobank | rs387907238 |
1000 genomes | rs387907238 |
hgdp | rs387907238 |
ensembl | rs387907238 |
geneview | rs387907238 |
scholar | rs387907238 |
rs387907238 | |
pharmgkb | rs387907238 |
gwascentral | rs387907238 |
openSNP | rs387907238 |
23andMe | rs387907238 |
SNPshot | rs387907238 |
SNPdbe | rs387907238 |
MSV3d | rs387907238 |
GWAS Ctlg | rs387907238 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907238(A;A) rs387907238(G;G) |
Alt | rs387907238(A;A) rs387907238(G;G) |
Reference | Rs387907238(T;T) |
Significance | Pathogenic |
Disease | Mitochondrial pyruvate carrier deficiency |
Variation | info |
Gene | MPC1 |
CLNDBN | Mitochondrial pyruvate carrier deficiency |
Reversed | 1 |
HGVS | NC_000006.11:g.166779531A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000029224.2, |