rs139721632
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139721632(A;A) |
Make rs139721632(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 87529602 |
Gene | RARS2 |
is a | snp |
is | mentioned by |
dbSNP | rs139721632 |
dbSNP (classic) | rs139721632 |
ClinGen | rs139721632 |
ebi | rs139721632 |
HLI | rs139721632 |
Exac | rs139721632 |
Gnomad | rs139721632 |
Varsome | rs139721632 |
LitVar | rs139721632 |
Map | rs139721632 |
PheGenI | rs139721632 |
Biobank | rs139721632 |
1000 genomes | rs139721632 |
hgdp | rs139721632 |
ensembl | rs139721632 |
geneview | rs139721632 |
scholar | rs139721632 |
rs139721632 | |
pharmgkb | rs139721632 |
gwascentral | rs139721632 |
openSNP | rs139721632 |
23andMe | rs139721632 |
SNPshot | rs139721632 |
SNPdbe | rs139721632 |
MSV3d | rs139721632 |
GWAS Ctlg | rs139721632 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139721632(A;A) rs139721632(G;G) rs139721632(T;T) |
Alt | rs139721632(A;A) rs139721632(G;G) rs139721632(T;T) |
Reference | Rs139721632(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Pontoneocerebellar hypoplasia |
Variation | info |
Gene | RARS2 |
CLNDBN | not specified Pontoneocerebellar hypoplasia |
Reversed | 0 |
HGVS | NC_000006.11:g.88239320C>A; NC_000006.11:g.88239320C>G |
CLNSRC | |
CLNACC | RCV000196972.1, RCV000359352.1, RCV000266998.1, |