rs775029664
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs775029664(A;A) |
Make rs775029664(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 67811665 |
Gene | DNAJC12 |
is a | snp |
is | mentioned by |
dbSNP | rs775029664 |
dbSNP (classic) | rs775029664 |
ClinGen | rs775029664 |
ebi | rs775029664 |
HLI | rs775029664 |
Exac | rs775029664 |
Gnomad | rs775029664 |
Varsome | rs775029664 |
LitVar | rs775029664 |
Map | rs775029664 |
PheGenI | rs775029664 |
Biobank | rs775029664 |
1000 genomes | rs775029664 |
hgdp | rs775029664 |
ensembl | rs775029664 |
geneview | rs775029664 |
scholar | rs775029664 |
rs775029664 | |
pharmgkb | rs775029664 |
gwascentral | rs775029664 |
openSNP | rs775029664 |
23andMe | rs775029664 |
SNPshot | rs775029664 |
SNPdbe | rs775029664 |
MSV3d | rs775029664 |
GWAS Ctlg | rs775029664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775029664(A;A) |
Alt | rs775029664(A;A) |
Reference | Rs775029664(T;T) |
Significance | Pathogenic |
Disease | Hyperphenylalaninemia |
Variation | info |
Gene | DNAJC12 |
CLNDBN | Hyperphenylalaninemia, mild, non-bh4-deficient |
Reversed | 0 |
HGVS | NC_000010.10:g.69571423T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000445360.1, |