rs119103225
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs119103225(A;G) |
Make rs119103225(G;G) |
Reference | GRCh37 37.1/132 |
Chromosome | 5 |
Position | 71604413 |
Gene | MCCC2 |
is a | snp |
is | mentioned by |
dbSNP | rs119103225 |
dbSNP (classic) | rs119103225 |
ClinGen | rs119103225 |
ebi | rs119103225 |
HLI | rs119103225 |
Exac | rs119103225 |
Gnomad | rs119103225 |
Varsome | rs119103225 |
LitVar | rs119103225 |
Map | rs119103225 |
PheGenI | rs119103225 |
Biobank | rs119103225 |
1000 genomes | rs119103225 |
hgdp | rs119103225 |
ensembl | rs119103225 |
geneview | rs119103225 |
scholar | rs119103225 |
rs119103225 | |
pharmgkb | rs119103225 |
gwascentral | rs119103225 |
openSNP | rs119103225 |
23andMe | rs119103225 |
SNPshot | rs119103225 |
SNPdbe | rs119103225 |
MSV3d | rs119103225 |
GWAS Ctlg | rs119103225 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119103225(G;G) |
Alt | rs119103225(G;G) |
Reference | Rs119103225(A;A) |
Significance | Pathogenic |
Disease | 3-methylcrotonyl CoA carboxylase 2 deficiency |
Variation | info |
Gene | MCCC2 |
CLNDBN | 3-methylcrotonyl CoA carboxylase 2 deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.70900240A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002003.3, |