rs727504002
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727504002(-;-) |
Make rs727504002(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 183037286 |
Gene | MCCC1 |
is a | snp |
is | mentioned by |
dbSNP | rs727504002 |
dbSNP (classic) | rs727504002 |
ClinGen | rs727504002 |
ebi | rs727504002 |
HLI | rs727504002 |
Exac | rs727504002 |
Gnomad | rs727504002 |
Varsome | rs727504002 |
LitVar | rs727504002 |
Map | rs727504002 |
PheGenI | rs727504002 |
Biobank | rs727504002 |
1000 genomes | rs727504002 |
hgdp | rs727504002 |
ensembl | rs727504002 |
geneview | rs727504002 |
scholar | rs727504002 |
rs727504002 | |
pharmgkb | rs727504002 |
gwascentral | rs727504002 |
openSNP | rs727504002 |
23andMe | rs727504002 |
SNPshot | rs727504002 |
SNPdbe | rs727504002 |
MSV3d | rs727504002 |
GWAS Ctlg | rs727504002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504002(-;-) |
Alt | rs727504002(-;-) |
Reference | Rs727504002(G;G) |
Significance | Pathogenic |
Disease | not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency |
Variation | info |
Gene | MCCC1 |
CLNDBN | not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency |
Reversed | 1 |
HGVS | NC_000003.11:g.182755074delC |
CLNSRC | HGMD |
CLNACC | RCV000153463.2, RCV000174585.2, |