rs1599988
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1599988(C;C) |
Make rs1599988(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 4216 |
Gene | ND1 |
is a | snp |
is | mentioned by |
dbSNP | rs1599988 |
dbSNP (classic) | rs1599988 |
ClinGen | rs1599988 |
ebi | rs1599988 |
HLI | rs1599988 |
Exac | rs1599988 |
Gnomad | rs1599988 |
Varsome | rs1599988 |
LitVar | rs1599988 |
Map | rs1599988 |
PheGenI | rs1599988 |
Biobank | rs1599988 |
1000 genomes | rs1599988 |
hgdp | rs1599988 |
ensembl | rs1599988 |
geneview | rs1599988 |
scholar | rs1599988 |
rs1599988 | |
pharmgkb | rs1599988 |
gwascentral | rs1599988 |
openSNP | rs1599988 |
23andMe | rs1599988 |
SNPshot | rs1599988 |
SNPdbe | rs1599988 |
MSV3d | rs1599988 |
GWAS Ctlg | rs1599988 |
GMAF | 0.07297 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1599988(C;C) |
Alt | rs1599988(C;C) |
Reference | Rs1599988(T;T) |
Significance | Other |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND1 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.4216T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010373.6, |