rs139852818
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs139852818(C;C) |
Make rs139852818(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 71649202 |
Gene | MCCC2 |
is a | snp |
is | mentioned by |
dbSNP | rs139852818 |
dbSNP (classic) | rs139852818 |
ClinGen | rs139852818 |
ebi | rs139852818 |
HLI | rs139852818 |
Exac | rs139852818 |
Gnomad | rs139852818 |
Varsome | rs139852818 |
LitVar | rs139852818 |
Map | rs139852818 |
PheGenI | rs139852818 |
Biobank | rs139852818 |
1000 genomes | rs139852818 |
hgdp | rs139852818 |
ensembl | rs139852818 |
geneview | rs139852818 |
scholar | rs139852818 |
rs139852818 | |
pharmgkb | rs139852818 |
gwascentral | rs139852818 |
openSNP | rs139852818 |
23andMe | rs139852818 |
SNPshot | rs139852818 |
SNPdbe | rs139852818 |
MSV3d | rs139852818 |
GWAS Ctlg | rs139852818 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139852818(A;A) rs139852818(C;C) |
Alt | rs139852818(A;A) rs139852818(C;C) |
Reference | Rs139852818(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified 3-methylcrotonyl CoA carboxylase 2 deficiency |
Variation | info |
Gene | MCCC2 |
CLNDBN | not specified 3-methylcrotonyl CoA carboxylase 2 deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.70945029T>C |
CLNSRC | |
CLNACC | RCV000186005.3, RCV000477880.1, |