rs28358582
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28358582(C;C) |
Make rs28358582(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3308 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs28358582 |
dbSNP (classic) | rs28358582 |
ClinGen | rs28358582 |
ebi | rs28358582 |
HLI | rs28358582 |
Exac | rs28358582 |
Gnomad | rs28358582 |
Varsome | rs28358582 |
LitVar | rs28358582 |
Map | rs28358582 |
PheGenI | rs28358582 |
Biobank | rs28358582 |
1000 genomes | rs28358582 |
hgdp | rs28358582 |
ensembl | rs28358582 |
geneview | rs28358582 |
scholar | rs28358582 |
rs28358582 | |
pharmgkb | rs28358582 |
gwascentral | rs28358582 |
openSNP | rs28358582 |
23andMe | rs28358582 |
SNPshot | rs28358582 |
SNPdbe | rs28358582 |
MSV3d | rs28358582 |
GWAS Ctlg | rs28358582 |
GMAF | 0.02713 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs28358582(A;A) rs28358582(C;C) rs28358582(G;G) |
Alt | rs28358582(A;A) rs28358582(C;C) rs28358582(G;G) |
Reference | Rs28358582(T;T) |
Significance | Pathogenic |
Disease | Carcinoma of colon SUDDEN INFANT DEATH SYNDROME not specified |
Variation | info |
Gene | ND1 |
CLNDBN | Carcinoma of colon SUDDEN INFANT DEATH SYNDROME not specified |
Reversed | 0 |
HGVS | NC_012920.1:m.3308T>C; NC_012920.1:m.3308T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010379.2, RCV000010380.4, RCV000239184.1, RCV000010381.2, |