rs199706677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199706677(A;A) |
Make rs199706677(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 43918330 |
Gene | LRPPRC |
is a | snp |
is | mentioned by |
dbSNP | rs199706677 |
dbSNP (classic) | rs199706677 |
ClinGen | rs199706677 |
ebi | rs199706677 |
HLI | rs199706677 |
Exac | rs199706677 |
Gnomad | rs199706677 |
Varsome | rs199706677 |
LitVar | rs199706677 |
Map | rs199706677 |
PheGenI | rs199706677 |
Biobank | rs199706677 |
1000 genomes | rs199706677 |
hgdp | rs199706677 |
ensembl | rs199706677 |
geneview | rs199706677 |
scholar | rs199706677 |
rs199706677 | |
pharmgkb | rs199706677 |
gwascentral | rs199706677 |
openSNP | rs199706677 |
23andMe | rs199706677 |
SNPshot | rs199706677 |
SNPdbe | rs199706677 |
MSV3d | rs199706677 |
GWAS Ctlg | rs199706677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199706677(A;A) |
Alt | rs199706677(A;A) |
Reference | Rs199706677(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Leigh syndrome |
Variation | info |
Gene | LRPPRC |
CLNDBN | not specified Leigh syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.44145469G>A |
CLNSRC | |
CLNACC | RCV000196348.2, RCV000405827.1, |