rs1035794099
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1035794099(C;G) |
Make rs1035794099(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 67811606 |
Gene | DNAJC12 |
is a | snp |
is | mentioned by |
dbSNP | rs1035794099 |
dbSNP (classic) | rs1035794099 |
ClinGen | rs1035794099 |
ebi | rs1035794099 |
HLI | rs1035794099 |
Exac | rs1035794099 |
Gnomad | rs1035794099 |
Varsome | rs1035794099 |
LitVar | rs1035794099 |
Map | rs1035794099 |
PheGenI | rs1035794099 |
Biobank | rs1035794099 |
1000 genomes | rs1035794099 |
hgdp | rs1035794099 |
ensembl | rs1035794099 |
geneview | rs1035794099 |
scholar | rs1035794099 |
rs1035794099 | |
pharmgkb | rs1035794099 |
gwascentral | rs1035794099 |
openSNP | rs1035794099 |
23andMe | rs1035794099 |
SNPshot | rs1035794099 |
SNPdbe | rs1035794099 |
MSV3d | rs1035794099 |
GWAS Ctlg | rs1035794099 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1035794099(T;T) |
Alt | rs1035794099(T;T) |
Reference | Rs1035794099(C;C) |
Significance | Pathogenic |
Disease | Hyperphenylalaninemia |
Variation | info |
Gene | DNAJC12 |
CLNDBN | Hyperphenylalaninemia, mild, non-bh4-deficient |
Reversed | 0 |
HGVS | NC_000010.10:g.69571364C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000445357.1, |