rs121912641
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912641(C;C) |
Make rs121912641(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 180271856 |
Gene | ACBD6, LHX4, LHX4-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912641 |
dbSNP (classic) | rs121912641 |
ClinGen | rs121912641 |
ebi | rs121912641 |
HLI | rs121912641 |
Exac | rs121912641 |
Gnomad | rs121912641 |
Varsome | rs121912641 |
LitVar | rs121912641 |
Map | rs121912641 |
PheGenI | rs121912641 |
Biobank | rs121912641 |
1000 genomes | rs121912641 |
hgdp | rs121912641 |
ensembl | rs121912641 |
geneview | rs121912641 |
scholar | rs121912641 |
rs121912641 | |
pharmgkb | rs121912641 |
gwascentral | rs121912641 |
openSNP | rs121912641 |
23andMe | rs121912641 |
SNPshot | rs121912641 |
SNPdbe | rs121912641 |
MSV3d | rs121912641 |
GWAS Ctlg | rs121912641 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912641(C;C) |
Alt | rs121912641(C;C) |
Reference | Rs121912641(G;G) |
Significance | Pathogenic |
Disease | Pituitary hormone deficiency |
Variation | info |
Gene | LHX4 LHX4-AS1 |
CLNDBN | Pituitary hormone deficiency, combined 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.180240991G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007936.2, |