rs267607231
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607231(G;T) |
Make rs267607231(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 13885143 |
Gene | MC2R |
is a | snp |
is | mentioned by |
dbSNP | rs267607231 |
dbSNP (classic) | rs267607231 |
ClinGen | rs267607231 |
ebi | rs267607231 |
HLI | rs267607231 |
Exac | rs267607231 |
Gnomad | rs267607231 |
Varsome | rs267607231 |
LitVar | rs267607231 |
Map | rs267607231 |
PheGenI | rs267607231 |
Biobank | rs267607231 |
1000 genomes | rs267607231 |
hgdp | rs267607231 |
ensembl | rs267607231 |
geneview | rs267607231 |
scholar | rs267607231 |
rs267607231 | |
pharmgkb | rs267607231 |
gwascentral | rs267607231 |
openSNP | rs267607231 |
23andMe | rs267607231 |
SNPshot | rs267607231 |
SNPdbe | rs267607231 |
MSV3d | rs267607231 |
GWAS Ctlg | rs267607231 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607231(A;A) rs267607231(T;T) |
Alt | rs267607231(A;A) rs267607231(T;T) |
Reference | Rs267607231(G;G) |
Significance | Pathogenic |
Disease | ACTH resistance |
Variation | info |
Gene | MC2R |
CLNDBN | ACTH resistance |
Reversed | 1 |
HGVS | NC_000018.9:g.13885142C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003423.3, |