rs121964955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121964955(G;T) |
Make rs121964955(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 158685137 |
Gene | ETFDH |
is a | snp |
is | mentioned by |
dbSNP | rs121964955 |
dbSNP (classic) | rs121964955 |
ClinGen | rs121964955 |
ebi | rs121964955 |
HLI | rs121964955 |
Exac | rs121964955 |
Gnomad | rs121964955 |
Varsome | rs121964955 |
LitVar | rs121964955 |
Map | rs121964955 |
PheGenI | rs121964955 |
Biobank | rs121964955 |
1000 genomes | rs121964955 |
hgdp | rs121964955 |
ensembl | rs121964955 |
geneview | rs121964955 |
scholar | rs121964955 |
rs121964955 | |
pharmgkb | rs121964955 |
gwascentral | rs121964955 |
openSNP | rs121964955 |
23andMe | rs121964955 |
SNPshot | rs121964955 |
SNPdbe | rs121964955 |
MSV3d | rs121964955 |
GWAS Ctlg | rs121964955 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964955(A;A) rs121964955(C;C) rs121964955(T;T) |
Alt | rs121964955(A;A) rs121964955(C;C) rs121964955(T;T) |
Reference | Rs121964955(G;G) |
Significance | Pathogenic |
Disease | Glutaric acidemia IIC not provided |
Variation | info |
Gene | ETFDH |
CLNDBN | Glutaric acidemia IIC not provided |
Reversed | 0 |
HGVS | NC_000004.11:g.159606289G>A; NC_000004.11:g.159606289G>C; NC_000004.11:g.159606289G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024282.24, RCV000185890.1, RCV000012809.24, |