rs201312386
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201312386(C;C) |
Make rs201312386(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 45508838 |
Gene | MMACHC |
is a | snp |
is | mentioned by |
dbSNP | rs201312386 |
dbSNP (classic) | rs201312386 |
ClinGen | rs201312386 |
ebi | rs201312386 |
HLI | rs201312386 |
Exac | rs201312386 |
Gnomad | rs201312386 |
Varsome | rs201312386 |
LitVar | rs201312386 |
Map | rs201312386 |
PheGenI | rs201312386 |
Biobank | rs201312386 |
1000 genomes | rs201312386 |
hgdp | rs201312386 |
ensembl | rs201312386 |
geneview | rs201312386 |
scholar | rs201312386 |
rs201312386 | |
pharmgkb | rs201312386 |
gwascentral | rs201312386 |
openSNP | rs201312386 |
23andMe | rs201312386 |
SNPshot | rs201312386 |
SNPdbe | rs201312386 |
MSV3d | rs201312386 |
GWAS Ctlg | rs201312386 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201312386(C;C) |
Alt | rs201312386(C;C) |
Reference | Rs201312386(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | MMACHC |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.45974510T>C |
CLNSRC | |
CLNACC | RCV000186030.1, |