rs397507171
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397507171(A;A) |
Make rs397507171(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 15635624 |
Gene | BTD |
is a | snp |
is | mentioned by |
dbSNP | rs397507171 |
dbSNP (classic) | rs397507171 |
ClinGen | rs397507171 |
ebi | rs397507171 |
HLI | rs397507171 |
Exac | rs397507171 |
Gnomad | rs397507171 |
Varsome | rs397507171 |
LitVar | rs397507171 |
Map | rs397507171 |
PheGenI | rs397507171 |
Biobank | rs397507171 |
1000 genomes | rs397507171 |
hgdp | rs397507171 |
ensembl | rs397507171 |
geneview | rs397507171 |
scholar | rs397507171 |
rs397507171 | |
pharmgkb | rs397507171 |
gwascentral | rs397507171 |
openSNP | rs397507171 |
23andMe | rs397507171 |
SNPshot | rs397507171 |
SNPdbe | rs397507171 |
MSV3d | rs397507171 |
GWAS Ctlg | rs397507171 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507171(A;A) rs397507171(T;T) |
Alt | rs397507171(A;A) rs397507171(T;T) |
Reference | Rs397507171(C;C) |
Significance | Pathogenic |
Disease | Biotinidase deficiency |
Variation | info |
Gene | BTD |
CLNDBN | Biotinidase deficiency |
Reversed | 0 |
HGVS | NC_000003.11:g.15677131C>A; NC_000003.11:g.15677131C>T |
CLNSRC | ARUP BTD |
CLNACC | RCV000021906.1, RCV000021907.1, |