rs756980496
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs756980496(C;C) |
Make rs756980496(C;T) |
Make rs756980496(T;T) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 1 |
Position | 45507432 |
Gene | MMACHC |
is a | snp |
is | mentioned by |
dbSNP | rs756980496 |
dbSNP (classic) | rs756980496 |
ClinGen | rs756980496 |
ebi | rs756980496 |
HLI | rs756980496 |
Exac | rs756980496 |
Gnomad | rs756980496 |
Varsome | rs756980496 |
LitVar | rs756980496 |
Map | rs756980496 |
PheGenI | rs756980496 |
Biobank | rs756980496 |
1000 genomes | rs756980496 |
hgdp | rs756980496 |
ensembl | rs756980496 |
geneview | rs756980496 |
scholar | rs756980496 |
rs756980496 | |
pharmgkb | rs756980496 |
gwascentral | rs756980496 |
openSNP | rs756980496 |
23andMe | rs756980496 |
SNPshot | rs756980496 |
SNPdbe | rs756980496 |
MSV3d | rs756980496 |
GWAS Ctlg | rs756980496 |
Max Magnitude | 0 |
aka NM_015506.2(MMACHC):c.158T>C or (p.Leu53Pro)
OMIM pathogenic variant