rs267606683
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
(A;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(T;T) | 8 | Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 765564 |
Gene | SLC52A3 |
is a | snp |
is | mentioned by |
dbSNP | rs267606683 |
dbSNP (classic) | rs267606683 |
ClinGen | rs267606683 |
ebi | rs267606683 |
HLI | rs267606683 |
Exac | rs267606683 |
Gnomad | rs267606683 |
Varsome | rs267606683 |
LitVar | rs267606683 |
Map | rs267606683 |
PheGenI | rs267606683 |
Biobank | rs267606683 |
1000 genomes | rs267606683 |
hgdp | rs267606683 |
ensembl | rs267606683 |
geneview | rs267606683 |
scholar | rs267606683 |
rs267606683 | |
pharmgkb | rs267606683 |
gwascentral | rs267606683 |
openSNP | rs267606683 |
23andMe | rs267606683 |
SNPshot | rs267606683 |
SNPdbe | rs267606683 |
MSV3d | rs267606683 |
GWAS Ctlg | rs267606683 |
Max Magnitude | 8 |
23andMe name for the c.G>T mutation: i5008313
ClinVar | |
---|---|
Risk | Rs267606683(A;A) Rs267606683(T;T) |
Alt | Rs267606683(A;A) Rs267606683(T;T) |
Reference | Rs267606683(G;G) |
Significance | Pathogenic |
Disease | Brown-Vialetto-Van Laere syndrome 1 |
Variation | info |
Gene | SLC52A3 |
CLNDBN | Brown-Vialetto-Van Laere syndrome 1 |
Reversed | 1 |
HGVS | NC_000020.10:g.746208C>A; NC_000020.10:g.746208C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000163.5, RCV000191960.1, |