rs864309642
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864309642(C;T) |
Make rs864309642(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 45476508 |
Gene | LARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs864309642 |
dbSNP (classic) | rs864309642 |
ClinGen | rs864309642 |
ebi | rs864309642 |
HLI | rs864309642 |
Exac | rs864309642 |
Gnomad | rs864309642 |
Varsome | rs864309642 |
LitVar | rs864309642 |
Map | rs864309642 |
PheGenI | rs864309642 |
Biobank | rs864309642 |
1000 genomes | rs864309642 |
hgdp | rs864309642 |
ensembl | rs864309642 |
geneview | rs864309642 |
scholar | rs864309642 |
rs864309642 | |
pharmgkb | rs864309642 |
gwascentral | rs864309642 |
openSNP | rs864309642 |
23andMe | rs864309642 |
SNPshot | rs864309642 |
SNPdbe | rs864309642 |
MSV3d | rs864309642 |
GWAS Ctlg | rs864309642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309642(T;T) |
Alt | rs864309642(T;T) |
Reference | Rs864309642(C;C) |
Significance | Pathogenic |
Disease | Perrault syndrome 4 |
Variation | info |
Gene | LARS2 |
CLNDBN | Perrault syndrome 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.45518000C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203256.1, RCV000203257.2, |