rs747499304
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs747499304(-;ACACGGCGGCCCGGC) |
Make rs747499304(ACACGGCGGCCCGGC;ACACGGCGGCCCGGC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 109561046 |
Gene | MMAB |
is a | snp |
is | mentioned by |
dbSNP | rs747499304 |
dbSNP (classic) | rs747499304 |
ClinGen | rs747499304 |
ebi | rs747499304 |
HLI | rs747499304 |
Exac | rs747499304 |
Gnomad | rs747499304 |
Varsome | rs747499304 |
LitVar | rs747499304 |
Map | rs747499304 |
PheGenI | rs747499304 |
Biobank | rs747499304 |
1000 genomes | rs747499304 |
hgdp | rs747499304 |
ensembl | rs747499304 |
geneview | rs747499304 |
scholar | rs747499304 |
rs747499304 | |
pharmgkb | rs747499304 |
gwascentral | rs747499304 |
openSNP | rs747499304 |
23andMe | rs747499304 |
SNPshot | rs747499304 |
SNPdbe | rs747499304 |
MSV3d | rs747499304 |
GWAS Ctlg | rs747499304 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747499304(CGGCCCGGCGGCACA;CGGCCCGGCGGCACA) |
Alt | rs747499304(CGGCCCGGCGGCACA;CGGCCCGGCGGCACA) |
Reference | Rs747499304(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MMAB |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.109998852_109998866dupCGGCCCGGCGGCACA |
CLNSRC | |
CLNACC | RCV000186021.1, |