rs104894657
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894657(C;T) |
Make rs104894657(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 13885137 |
Gene | MC2R |
is a | snp |
is | mentioned by |
dbSNP | rs104894657 |
dbSNP (classic) | rs104894657 |
ClinGen | rs104894657 |
ebi | rs104894657 |
HLI | rs104894657 |
Exac | rs104894657 |
Gnomad | rs104894657 |
Varsome | rs104894657 |
LitVar | rs104894657 |
Map | rs104894657 |
PheGenI | rs104894657 |
Biobank | rs104894657 |
1000 genomes | rs104894657 |
hgdp | rs104894657 |
ensembl | rs104894657 |
geneview | rs104894657 |
scholar | rs104894657 |
rs104894657 | |
pharmgkb | rs104894657 |
gwascentral | rs104894657 |
openSNP | rs104894657 |
23andMe | rs104894657 |
SNPshot | rs104894657 |
SNPdbe | rs104894657 |
MSV3d | rs104894657 |
GWAS Ctlg | rs104894657 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894657(T;T) |
Alt | rs104894657(T;T) |
Reference | Rs104894657(C;C) |
Significance | Pathogenic |
Disease | ACTH resistance |
Variation | info |
Gene | MC2R |
CLNDBN | ACTH resistance |
Reversed | 1 |
HGVS | NC_000018.9:g.13885136G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003417.3, |