rs758477536
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a methylmalonic aciduria type cblC mutation |
Make rs758477536(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 45500333 |
Gene | CCDC163, MMACHC |
is a | snp |
is | mentioned by |
dbSNP | rs758477536 |
dbSNP (classic) | rs758477536 |
ClinGen | rs758477536 |
ebi | rs758477536 |
HLI | rs758477536 |
Exac | rs758477536 |
Gnomad | rs758477536 |
Varsome | rs758477536 |
LitVar | rs758477536 |
Map | rs758477536 |
PheGenI | rs758477536 |
Biobank | rs758477536 |
1000 genomes | rs758477536 |
hgdp | rs758477536 |
ensembl | rs758477536 |
geneview | rs758477536 |
scholar | rs758477536 |
rs758477536 | |
pharmgkb | rs758477536 |
gwascentral | rs758477536 |
openSNP | rs758477536 |
23andMe | rs758477536 |
SNPshot | rs758477536 |
SNPdbe | rs758477536 |
MSV3d | rs758477536 |
GWAS Ctlg | rs758477536 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs758477536(G;G) rs758477536(T;T) |
Alt | rs758477536(G;G) rs758477536(T;T) |
Reference | Rs758477536(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MMACHC CCDC163 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.45966005A>G |
CLNSRC | |
CLNACC | RCV000440436.1, |