rs571038432
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 rs571038432(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 145655165 |
Gene | MMAA |
is a | snp |
is | mentioned by |
dbSNP | rs571038432 |
dbSNP (classic) | rs571038432 |
ClinGen | rs571038432 |
ebi | rs571038432 |
HLI | rs571038432 |
Exac | rs571038432 |
Gnomad | rs571038432 |
Varsome | rs571038432 |
LitVar | rs571038432 |
Map | rs571038432 |
PheGenI | rs571038432 |
Biobank | rs571038432 |
1000 genomes | rs571038432 |
hgdp | rs571038432 |
ensembl | rs571038432 |
geneview | rs571038432 |
scholar | rs571038432 |
rs571038432 | |
pharmgkb | rs571038432 |
gwascentral | rs571038432 |
openSNP | rs571038432 |
23andMe | rs571038432 |
SNPshot | rs571038432 |
SNPdbe | rs571038432 |
MSV3d | rs571038432 |
GWAS Ctlg | rs571038432 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs571038432(T;T) |
Alt | rs571038432(T;T) |
Reference | Rs571038432(C;C) |
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.146576317C>T |
CLNSRC | |
CLNACC | RCV000186014.2, RCV000203343.1, |