rs374434303
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs374434303(C;T) |
Make rs374434303(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 7561509 |
Gene | PNPLA6 |
is a | snp |
is | mentioned by |
dbSNP | rs374434303 |
dbSNP (classic) | rs374434303 |
ClinGen | rs374434303 |
ebi | rs374434303 |
HLI | rs374434303 |
Exac | rs374434303 |
Gnomad | rs374434303 |
Varsome | rs374434303 |
LitVar | rs374434303 |
Map | rs374434303 |
PheGenI | rs374434303 |
Biobank | rs374434303 |
1000 genomes | rs374434303 |
hgdp | rs374434303 |
ensembl | rs374434303 |
geneview | rs374434303 |
scholar | rs374434303 |
rs374434303 | |
pharmgkb | rs374434303 |
gwascentral | rs374434303 |
openSNP | rs374434303 |
23andMe | rs374434303 |
SNPshot | rs374434303 |
SNPdbe | rs374434303 |
MSV3d | rs374434303 |
GWAS Ctlg | rs374434303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374434303(T;T) |
Alt | rs374434303(T;T) |
Reference | Rs374434303(C;C) |
Significance | Probable-Pathogenic |
Disease | Ataxia Dysarthria Hypogonadotrophic hypogonadism Cerebellar atrophy Gait ataxia |
Variation | info |
Gene | PNPLA6 |
CLNDBN | Ataxia Dysarthria Hypogonadotrophic hypogonadism Cerebellar atrophy Gait ataxia |
Reversed | 0 |
HGVS | NC_000019.9:g.7626395C>T |
CLNSRC | |
CLNACC | RCV000414761.1, RCV000415064.1, |