rs1057519312
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057519312(C;T) |
Make rs1057519312(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 27136371 |
Gene | YME1L1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519312 |
dbSNP (classic) | rs1057519312 |
ClinGen | rs1057519312 |
ebi | rs1057519312 |
HLI | rs1057519312 |
Exac | rs1057519312 |
Gnomad | rs1057519312 |
Varsome | rs1057519312 |
LitVar | rs1057519312 |
Map | rs1057519312 |
PheGenI | rs1057519312 |
Biobank | rs1057519312 |
1000 genomes | rs1057519312 |
hgdp | rs1057519312 |
ensembl | rs1057519312 |
geneview | rs1057519312 |
scholar | rs1057519312 |
rs1057519312 | |
pharmgkb | rs1057519312 |
gwascentral | rs1057519312 |
openSNP | rs1057519312 |
23andMe | rs1057519312 |
SNPshot | rs1057519312 |
SNPdbe | rs1057519312 |
MSV3d | rs1057519312 |
GWAS Ctlg | rs1057519312 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519312(T;T) |
Alt | rs1057519312(T;T) |
Reference | Rs1057519312(C;C) |
Significance | Pathogenic |
Disease | Optic atrophy 11 |
Variation | info |
Gene | YME1L1 |
CLNDBN | Optic atrophy 11 |
Reversed | 1 |
HGVS | NC_000010.10:g.27425300G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000415698.2, |