rs185741664
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs185741664(A;A) |
Make rs185741664(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 183057343 |
Gene | MCCC1 |
is a | snp |
is | mentioned by |
dbSNP | rs185741664 |
dbSNP (classic) | rs185741664 |
ClinGen | rs185741664 |
ebi | rs185741664 |
HLI | rs185741664 |
Exac | rs185741664 |
Gnomad | rs185741664 |
Varsome | rs185741664 |
LitVar | rs185741664 |
Map | rs185741664 |
PheGenI | rs185741664 |
Biobank | rs185741664 |
1000 genomes | rs185741664 |
hgdp | rs185741664 |
ensembl | rs185741664 |
geneview | rs185741664 |
scholar | rs185741664 |
rs185741664 | |
pharmgkb | rs185741664 |
gwascentral | rs185741664 |
openSNP | rs185741664 |
23andMe | rs185741664 |
SNPshot | rs185741664 |
SNPdbe | rs185741664 |
MSV3d | rs185741664 |
GWAS Ctlg | rs185741664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs185741664(A;A) |
Alt | rs185741664(A;A) |
Reference | Rs185741664(G;G) |
Significance | Pathogenic |
Disease | 3 Methylcrotonyl-CoA carboxylase 1 deficiency |
Variation | info |
Gene | MCCC1 |
CLNDBN | 3 Methylcrotonyl-CoA carboxylase 1 deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.182775131G>A |
CLNSRC | |
CLNACC | RCV000281372.1, |