rs281797258
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281797258(A;A) |
Make rs281797258(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 10413265 |
Gene | MKKS |
is a | snp |
is | mentioned by |
dbSNP | rs281797258 |
dbSNP (classic) | rs281797258 |
ClinGen | rs281797258 |
ebi | rs281797258 |
HLI | rs281797258 |
Exac | rs281797258 |
Gnomad | rs281797258 |
Varsome | rs281797258 |
LitVar | rs281797258 |
Map | rs281797258 |
PheGenI | rs281797258 |
Biobank | rs281797258 |
1000 genomes | rs281797258 |
hgdp | rs281797258 |
ensembl | rs281797258 |
geneview | rs281797258 |
scholar | rs281797258 |
rs281797258 | |
pharmgkb | rs281797258 |
gwascentral | rs281797258 |
openSNP | rs281797258 |
23andMe | rs281797258 |
SNPshot | rs281797258 |
SNPdbe | rs281797258 |
MSV3d | rs281797258 |
GWAS Ctlg | rs281797258 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281797258(A;A) |
Alt | rs281797258(A;A) |
Reference | Rs281797258(G;G) |
Significance | Pathogenic |
Disease | McKusick Kaufman syndrome |
Variation | info |
Gene | MKKS |
CLNDBN | McKusick Kaufman syndrome |
Reversed | 0 |
HGVS | NC_000020.10:g.10393913G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005632.3, |