rs754545360
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
Make rs754545360(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 145639536 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs754545360 |
dbSNP (classic) | rs754545360 |
ClinGen | rs754545360 |
ebi | rs754545360 |
HLI | rs754545360 |
Exac | rs754545360 |
Gnomad | rs754545360 |
Varsome | rs754545360 |
LitVar | rs754545360 |
Map | rs754545360 |
PheGenI | rs754545360 |
Biobank | rs754545360 |
1000 genomes | rs754545360 |
hgdp | rs754545360 |
ensembl | rs754545360 |
geneview | rs754545360 |
scholar | rs754545360 |
rs754545360 | |
pharmgkb | rs754545360 |
gwascentral | rs754545360 |
openSNP | rs754545360 |
23andMe | rs754545360 |
SNPshot | rs754545360 |
SNPdbe | rs754545360 |
MSV3d | rs754545360 |
GWAS Ctlg | rs754545360 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs754545360(T;T) |
Alt | rs754545360(T;T) |
Reference | Rs754545360(C;C) |
Significance | Pathogenic |
Disease | Methylmalonic aciduria cblA type |
Variation | info |
Gene | MMAA |
CLNDBN | Methylmalonic aciduria cblA type |
Reversed | 0 |
HGVS | NC_000004.11:g.146560688C>T |
CLNSRC | |
CLNACC | RCV000203403.1, |