rs796051993
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CTGA) | 3 | Carrier of a methylmalonic aciduria type cblA mutation |
(CTGA;CTGA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TGAC;TGAC) | 0 | common in clinvar |
Make rs796051993(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 145646016 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs796051993 |
dbSNP (classic) | rs796051993 |
ClinGen | rs796051993 |
ebi | rs796051993 |
HLI | rs796051993 |
Exac | rs796051993 |
Gnomad | rs796051993 |
Varsome | rs796051993 |
LitVar | rs796051993 |
Map | rs796051993 |
PheGenI | rs796051993 |
Biobank | rs796051993 |
1000 genomes | rs796051993 |
hgdp | rs796051993 |
ensembl | rs796051993 |
geneview | rs796051993 |
scholar | rs796051993 |
rs796051993 | |
pharmgkb | rs796051993 |
gwascentral | rs796051993 |
openSNP | rs796051993 |
23andMe | rs796051993 |
SNPshot | rs796051993 |
SNPdbe | rs796051993 |
MSV3d | rs796051993 |
GWAS Ctlg | rs796051993 |
Merged from | Rs864309732 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs796051993(-;-) rs796051993(ACTG;ACTG) Rs796051993(TGAC;TGAC) |
Alt | rs796051993(-;-) rs796051993(ACTG;ACTG) Rs796051993(TGAC;TGAC) |
Reference | Rs796051993(CTGA;CTGA) |
Significance | Pathogenic |
Disease | not provided Methylmalonic aciduria cblA type |
Variation | info |
Gene | MMAA |
CLNDBN | not provided Methylmalonic aciduria cblA type |
Reversed | 0 |
HGVS | NC_000004.11:g.146567168_146567171delCTGA |
CLNSRC | |
CLNACC | RCV000186013.1, RCV000203312.1, |