rs749963147
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs749963147(-;CCGG) |
Make rs749963147(CCGG;CCGG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 149027931 |
Gene | SH3TC2 |
is a | snp |
is | mentioned by |
dbSNP | rs749963147 |
dbSNP (classic) | rs749963147 |
ClinGen | rs749963147 |
ebi | rs749963147 |
HLI | rs749963147 |
Exac | rs749963147 |
Gnomad | rs749963147 |
Varsome | rs749963147 |
LitVar | rs749963147 |
Map | rs749963147 |
PheGenI | rs749963147 |
Biobank | rs749963147 |
1000 genomes | rs749963147 |
hgdp | rs749963147 |
ensembl | rs749963147 |
geneview | rs749963147 |
scholar | rs749963147 |
rs749963147 | |
pharmgkb | rs749963147 |
gwascentral | rs749963147 |
openSNP | rs749963147 |
23andMe | rs749963147 |
SNPshot | rs749963147 |
SNPdbe | rs749963147 |
MSV3d | rs749963147 |
GWAS Ctlg | rs749963147 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749963147(GGCC;GGCC) |
Alt | rs749963147(GGCC;GGCC) |
Reference | Rs749963147(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SH3TC2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.148407495_148407498dupGGCC |
CLNSRC | |
CLNACC | RCV000235976.1, |