rs727502768
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727502768(C;G) |
Make rs727502768(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 79599697 |
Gene | LOC101928230, MAF |
is a | snp |
is | mentioned by |
dbSNP | rs727502768 |
dbSNP (classic) | rs727502768 |
ClinGen | rs727502768 |
ebi | rs727502768 |
HLI | rs727502768 |
Exac | rs727502768 |
Gnomad | rs727502768 |
Varsome | rs727502768 |
LitVar | rs727502768 |
Map | rs727502768 |
PheGenI | rs727502768 |
Biobank | rs727502768 |
1000 genomes | rs727502768 |
hgdp | rs727502768 |
ensembl | rs727502768 |
geneview | rs727502768 |
scholar | rs727502768 |
rs727502768 | |
pharmgkb | rs727502768 |
gwascentral | rs727502768 |
openSNP | rs727502768 |
23andMe | rs727502768 |
SNPshot | rs727502768 |
SNPdbe | rs727502768 |
MSV3d | rs727502768 |
GWAS Ctlg | rs727502768 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502768(G;G) |
Alt | rs727502768(G;G) |
Reference | Rs727502768(C;C) |
Significance | Pathogenic |
Disease | Ayme-gripp syndrome not provided |
Variation | info |
Gene | MAF LOC101928230 |
CLNDBN | Ayme-gripp syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.79633594G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000149908.3, RCV000413144.1, |