rs786205068
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CC;CC) | 0 | common in clinvar |
Make rs786205068(CC;GGA) |
Make rs786205068(GGA;GGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 62705320 |
Gene | BSCL2, GNG3, HNRNPUL2-BSCL2 |
is a | snp |
is | mentioned by |
dbSNP | rs786205068 |
dbSNP (classic) | rs786205068 |
ClinGen | rs786205068 |
ebi | rs786205068 |
HLI | rs786205068 |
Exac | rs786205068 |
Gnomad | rs786205068 |
Varsome | rs786205068 |
LitVar | rs786205068 |
Map | rs786205068 |
PheGenI | rs786205068 |
Biobank | rs786205068 |
1000 genomes | rs786205068 |
hgdp | rs786205068 |
ensembl | rs786205068 |
geneview | rs786205068 |
scholar | rs786205068 |
rs786205068 | |
pharmgkb | rs786205068 |
gwascentral | rs786205068 |
openSNP | rs786205068 |
23andMe | rs786205068 |
SNPshot | rs786205068 |
SNPdbe | rs786205068 |
MSV3d | rs786205068 |
GWAS Ctlg | rs786205068 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205068(GGA;GGA) |
Alt | rs786205068(GGA;GGA) |
Reference | Rs786205068(CC;CC) |
Significance | Pathogenic |
Disease | Congenital generalized lipodystrophy type 2 |
Variation | info |
Gene | HNRNPUL2-BSCL2 BSCL2 |
CLNDBN | Congenital generalized lipodystrophy type 2 |
Reversed | 1 |
HGVS | NC_000011.9:g.62472792_62472793delGGinsTCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004789.3, |