rs5030841
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 6 | Phenylketonuria |
(C;T) | 3 | Carrier of a phenylketonuria mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 102912816 |
Gene | PAH |
is a | snp |
is | mentioned by |
dbSNP | rs5030841 |
dbSNP (classic) | rs5030841 |
ClinGen | rs5030841 |
ebi | rs5030841 |
HLI | rs5030841 |
Exac | rs5030841 |
Gnomad | rs5030841 |
Varsome | rs5030841 |
LitVar | rs5030841 |
Map | rs5030841 |
PheGenI | rs5030841 |
Biobank | rs5030841 |
1000 genomes | rs5030841 |
hgdp | rs5030841 |
ensembl | rs5030841 |
geneview | rs5030841 |
scholar | rs5030841 |
rs5030841 | |
pharmgkb | rs5030841 |
gwascentral | rs5030841 |
openSNP | rs5030841 |
23andMe | rs5030841 |
SNPshot | rs5030841 |
SNPdbe | rs5030841 |
MSV3d | rs5030841 |
GWAS Ctlg | rs5030841 |
Max Magnitude | 6 |
c.143T>C (p.Leu48Ser or L48S)
ClinVar | |
---|---|
Risk | Rs5030841(C;C) |
Alt | Rs5030841(C;C) |
Reference | Rs5030841(T;T) |
Significance | Pathogenic |
Disease | Phenylketonuria not provided |
Variation | info |
Gene | PAH |
CLNDBN | Phenylketonuria not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.103306594A>G |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000639.6, RCV000078511.6, |