rs121908049
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908049(A;A) |
Make rs121908049(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 67940471 |
Gene | LCAT |
is a | snp |
is | mentioned by |
dbSNP | rs121908049 |
dbSNP (classic) | rs121908049 |
ClinGen | rs121908049 |
ebi | rs121908049 |
HLI | rs121908049 |
Exac | rs121908049 |
Gnomad | rs121908049 |
Varsome | rs121908049 |
LitVar | rs121908049 |
Map | rs121908049 |
PheGenI | rs121908049 |
Biobank | rs121908049 |
1000 genomes | rs121908049 |
hgdp | rs121908049 |
ensembl | rs121908049 |
geneview | rs121908049 |
scholar | rs121908049 |
rs121908049 | |
pharmgkb | rs121908049 |
gwascentral | rs121908049 |
openSNP | rs121908049 |
23andMe | rs121908049 |
SNPshot | rs121908049 |
SNPdbe | rs121908049 |
MSV3d | rs121908049 |
GWAS Ctlg | rs121908049 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908049(A;A) |
Alt | rs121908049(A;A) |
Reference | Rs121908049(C;C) |
Significance | Pathogenic |
Disease | Norum disease |
Variation | info |
Gene | LCAT |
CLNDBN | Norum disease |
Reversed | 1 |
HGVS | NC_000016.9:g.67974374G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003844.3, |