rs199422219
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199422219(C;T) |
Make rs199422219(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 99611156 |
Gene | MTTP |
is a | snp |
is | mentioned by |
dbSNP | rs199422219 |
dbSNP (classic) | rs199422219 |
ClinGen | rs199422219 |
ebi | rs199422219 |
HLI | rs199422219 |
Exac | rs199422219 |
Gnomad | rs199422219 |
Varsome | rs199422219 |
LitVar | rs199422219 |
Map | rs199422219 |
PheGenI | rs199422219 |
Biobank | rs199422219 |
1000 genomes | rs199422219 |
hgdp | rs199422219 |
ensembl | rs199422219 |
geneview | rs199422219 |
scholar | rs199422219 |
rs199422219 | |
pharmgkb | rs199422219 |
gwascentral | rs199422219 |
openSNP | rs199422219 |
23andMe | rs199422219 |
SNPshot | rs199422219 |
SNPdbe | rs199422219 |
MSV3d | rs199422219 |
GWAS Ctlg | rs199422219 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199422219(T;T) |
Alt | rs199422219(T;T) |
Reference | Rs199422219(C;C) |
Significance | Pathogenic |
Disease | Abetalipoproteinaemia |
Variation | info |
Gene | MTTP |
CLNDBN | Abetalipoproteinaemia |
Reversed | 0 |
HGVS | NC_000004.11:g.100532313C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015303.22, |