rs2001030
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(G;G) | 0 | common on affy axiom data |
Make rs2001030(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 1438 |
is a | snp |
is | mentioned by |
dbSNP | rs2001030 |
dbSNP (classic) | rs2001030 |
ClinGen | rs2001030 |
ebi | rs2001030 |
HLI | rs2001030 |
Exac | rs2001030 |
Gnomad | rs2001030 |
Varsome | rs2001030 |
LitVar | rs2001030 |
Map | rs2001030 |
PheGenI | rs2001030 |
Biobank | rs2001030 |
1000 genomes | rs2001030 |
hgdp | rs2001030 |
ensembl | rs2001030 |
geneview | rs2001030 |
scholar | rs2001030 |
rs2001030 | |
pharmgkb | rs2001030 |
gwascentral | rs2001030 |
openSNP | rs2001030 |
23andMe | rs2001030 |
SNPshot | rs2001030 |
SNPdbe | rs2001030 |
MSV3d | rs2001030 |
GWAS Ctlg | rs2001030 |
GMAF | 0.04397 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
Haplogroup SNP | |
---|---|
Alt. Name(s) | G1438A |
Source(s) | [PMID 17099056] |
Tree | PhyloTree build 7 |
Clade Haplogroup |
No Clade Haplogroup |
Ancestral Haplogroup |
Haplogroup H (mtDNA) |
Derived Haplogroup |
Haplogroup H2 (mtDNA) |
Ancestral Allele | G |
Derived Allele | A |
ClinVar | |
---|---|
Risk | Rs2001030(G;G) |
Alt | Rs2001030(G;G) |
Reference | Rs2001030(A;A) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_012920.1:m.1438A\x3d; NC_012920.1:m.1438A>G |
CLNSRC | |
CLNACC | RCV000154311.1, RCV000035045.2, |