rs121434590
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434590(A;A) |
Make rs121434590(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 10406924 |
Gene | MYH8, MYHAS |
is a | snp |
is | mentioned by |
dbSNP | rs121434590 |
dbSNP (classic) | rs121434590 |
ClinGen | rs121434590 |
ebi | rs121434590 |
HLI | rs121434590 |
Exac | rs121434590 |
Gnomad | rs121434590 |
Varsome | rs121434590 |
LitVar | rs121434590 |
Map | rs121434590 |
PheGenI | rs121434590 |
Biobank | rs121434590 |
1000 genomes | rs121434590 |
hgdp | rs121434590 |
ensembl | rs121434590 |
geneview | rs121434590 |
scholar | rs121434590 |
rs121434590 | |
pharmgkb | rs121434590 |
gwascentral | rs121434590 |
openSNP | rs121434590 |
23andMe | rs121434590 |
SNPshot | rs121434590 |
SNPdbe | rs121434590 |
MSV3d | rs121434590 |
GWAS Ctlg | rs121434590 |
Merged from | Rs28932773 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434590(A;A) |
Alt | rs121434590(A;A) |
Reference | Rs121434590(G;G) |
Significance | Pathogenic |
Disease | Carney complex variant Hecht syndrome not provided |
Variation | info |
Gene | MYHAS MYH8 |
CLNDBN | Carney complex variant Hecht syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.10310241C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015197.25, RCV000015198.25, RCV000438123.1, |